Medical Syndromes

Browse our comprehensive list of medical syndromes and conditions. This resource is designed to provide reliable information about various syndromes, their symptoms, causes, and treatments.

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Showing 1379 syndromes

A

Aagenaes syndrome

A rare hereditary disorder causing recurrent cholestasis and lymphatic hypoplasia.

Aarskog–Scott syndrome

A genetic disorder with facial, limb, and genital anomalies, mostly affecting males.

Aase syndrome

A rare anemia with skeletal abnormalities and triphalangeal thumbs.

Abandoned child syndrome

A psychological condition stemming from early neglect or abandonment.

ABCD syndrome

A genetic disorder characterized by albinism, deafness, and immune defects.

Abdallat–Davis–Farrage syndrome

A rare neurocutaneous syndrome with pigmentary and neurologic symptoms.

Abderhalden–Kaufmann–Lignac syndrome

A rare condition with cystinosis, dwarfism, and photophobia.

Abdominal compartment syndrome

Increased intra-abdominal pressure causing organ dysfunction.

Ablepharon macrostomia syndrome

A rare disorder with absent eyelids and wide mouth.

Abruzzo–Erickson syndrome

A rare syndrome with intellectual disability, seizures, and eye anomalies.

Achard syndrome

A rare syndrome with arachnodactyly, joint hypermobility, and scoliosis.

Achard–Thiers syndrome

A postmenopausal disorder with diabetes and virilization.

Ackerman syndrome

A rare condition with dental anomalies and skin features.

Acorea, microphthalmia and cataract syndrome

A rare eye malformation syndrome involving small eyes and cataracts.

Acrocallosal syndrome

A genetic condition with corpus callosum agenesis, polydactyly, and developmental delay.

Acro–dermato–ungual–lacrimal–tooth syndrome

A condition involving ectodermal defects and limb malformations.

Acropectoral syndrome

A rare genetic disorder with limb and chest anomalies.

Activation syndrome

A side effect of certain antidepressants causing agitation and impulsivity.

Acute aortic syndrome

A life-threatening condition including aortic dissection and intramural hematoma.

Acute brain syndrome

Temporary brain dysfunction due to systemic or toxic causes.

Acute chest syndrome

A complication of sickle cell disease causing chest pain and lung infiltrates.

Acute coronary syndrome

A group of conditions causing sudden, reduced blood flow to the heart.

Acute HME syndrome

A severe form of human monocytic ehrlichiosis with multiorgan involvement.

Acute interstitial pneumonitis

A rapidly progressing lung condition resembling ARDS.

Acute motor axonal neuropathy

A subtype of Guillain–Barré syndrome affecting motor nerves.

Acute radiation syndrome

Illness caused by high-dose radiation exposure.

Acute respiratory distress syndrome

A severe lung condition causing respiratory failure.

Acute retroviral syndrome

Early symptoms following HIV infection.

Adams–Nance syndrome

A rare condition with heart block, deafness, and skeletal anomalies.

Adams–Oliver syndrome

A genetic disorder with scalp defects and limb abnormalities.

Adams–Stokes syndrome

Sudden syncope due to transient heart block.

Adducted thumb syndrome

A rare congenital condition with fixed thumbs and intellectual disability.

Adie syndrome

A neurological disorder with dilated pupil and absent deep tendon reflexes.

Adiposogenital dystrophy

A hypothalamic disorder with obesity and delayed sexual development.

Adult-onset immunodeficiency syndrome

An acquired immunodeficiency from anti-interferon antibodies.

Advanced sleep phase disorder

A circadian rhythm disorder causing early sleep and wake times.

Aerotoxic syndrome

Symptoms attributed to contaminated cabin air in aircraft.

Afferent loop syndrome

Obstruction of the duodenal afferent limb after gastric surgery.

Aicardi–Goutières syndrome

A genetic inflammatory disorder affecting the brain and immune system.

Aicardi syndrome

A rare genetic disorder in females with seizures and brain anomalies.

AIDS dysmorphic syndrome

A pattern of facial abnormalities in children with perinatal HIV infection.

Alagille syndrome

A genetic disorder that can affect the liver, heart, and other organs.

Albinism–deafness syndrome

A rare condition combining pigment loss and hearing impairment.

Alcohol withdrawal syndrome

Symptoms occurring when a person stops or reduces alcohol consumption after prolonged use.

Alezzandrini syndrome

A rare condition with facial paralysis, poliosis, and uveitis.

Alice in Wonderland syndrome

A neurological condition causing distorted perception of body image and time.

Alien hand syndrome

A rare neurological condition where a person's hand moves involuntarily.

Allan–Herndon–Dudley syndrome

An X-linked disorder causing severe intellectual disability and movement problems.

Allopurinol hypersensitivity syndrome

A rare, serious reaction to the drug allopurinol involving rash, fever, and organ damage.

Alopecia contractures dwarfism mental retardation syndrome

A rare syndrome involving hair loss, short stature, joint problems, and cognitive impairment.

Alpha-thalassemia mental retardation syndrome

A genetic condition with intellectual disability and alpha-thalassemia.

Alport syndrome

A genetic disorder affecting the kidneys, hearing, and eyes.

Al-Raqad syndrome

A rare genetic disorder involving intellectual disability and distinctive facial features.

Alström syndrome

A rare inherited disorder causing vision loss, hearing impairment, obesity, and diabetes.

Alvarez' syndrome

A historical term for abdominal bloating without apparent physical cause.

Amniotic band constriction

A condition where fibrous bands in the womb entangle fetal parts, causing defects.

Amotivational syndrome

A controversial condition associated with chronic cannabis use and reduced motivation.

Amplified musculoskeletal pain syndromes

Chronic pain conditions where pain perception is heightened without visible injury.

Andermann syndrome

A neurodegenerative disorder with agenesis of the corpus callosum and peripheral neuropathy.

Andersen–Tawil syndrome

A genetic disorder causing periodic paralysis, cardiac arrhythmias, and facial anomalies.

Androgen insensitivity syndrome

A condition where a person who is genetically male is resistant to male hormones.

Angelman syndrome

A neurodevelopmental disorder causing severe intellectual disability and a happy demeanor.

ANOTHER syndrome

A mnemonic for a syndrome with acne, nasal anomalies, and more; rarely used clinically.

Anterior cerebral artery syndrome

A stroke syndrome affecting the medial portions of the frontal lobes.

Anterior compartment syndrome

Increased pressure in a leg compartment that can damage muscles and nerves.

Anterior cutaneous nerve entrapment syndrome

Abdominal wall pain caused by nerve entrapment.

Anterior interosseous syndrome

A median nerve injury causing weakness in certain forearm muscles.

Anterior spinal artery syndrome

A spinal cord stroke causing motor and sensory deficits.

Anticonvulsant hypersensitivity syndrome

A rare, serious reaction to antiepileptic drugs with rash, fever, and organ involvement.

Antidepressant discontinuation syndrome

A group of symptoms that can occur after stopping antidepressant medications.

Antiphospholipid syndrome

An autoimmune disorder causing blood clots and pregnancy complications.

Antisynthetase syndrome

An autoimmune condition with interstitial lung disease, arthritis, and myositis.

Antley–Bixler syndrome

A congenital disorder with skeletal anomalies and craniofacial abnormalities.

Anton–Babinski syndrome

A rare condition where blind individuals deny their blindness.

Aortic arch syndrome

A group of disorders affecting the aortic arch and its branches.

Aortocaval compression syndrome

A condition in pregnant women where the uterus compresses the aorta and vena cava.

Apert syndrome

A genetic disorder with skull and limb abnormalities due to early bone fusion.

Apparent mineralocorticoid excess syndrome

A rare genetic disorder causing hypertension and low potassium.

Arakawa's syndrome II

A mitochondrial disorder with lactic acidosis and developmental delay.

Ardalan–Shoja–Kiuru syndrome

A very rare genetic syndrome characterized by renal and neurologic symptoms.

AREDYLD syndrome

A rare genetic condition with limb deformities, deafness, and intellectual disability.

Aromatase excess syndrome

A condition with increased estrogen levels, leading to gynecomastia and precocious puberty.

Arterial tortuosity syndrome

A connective tissue disorder causing twisted arteries and vascular issues.

Arthrogryposis–renal dysfunction–cholestasis syndrome

A rare condition with joint contractures, kidney issues, and liver disease.

Arts syndrome

A rare X-linked disorder with hearing loss, neuropathy, and ataxia.

Ascher's syndrome

A rare condition with eyelid swelling, double lip, and goiter.

Asherman's syndrome

Scarring of the uterus leading to menstrual abnormalities and infertility.

Asperger syndrome

A neurodevelopmental disorder on the autism spectrum with social and communication difficulties.

Asymmetric crying facies

Facial muscle weakness leading to a crooked smile in infants.

Ataxia-pancytopenia syndrome

A rare disorder with balance issues and low blood cell counts.

Ataxia-telangiectasia

A rare inherited disease causing neurological issues and immune deficiency.

Athletic heart syndrome

Benign enlargement of the heart in response to intense physical training.

Athymhormic syndrome

A rare neuropsychiatric condition with lack of motivation or emotion.

ATR-16 syndrome

A genetic syndrome with alpha-thalassemia and developmental delay.

Atrophodermia vermiculata

A rare skin disorder with pitted facial atrophy.

Atypical hemolytic uremic syndrome

A condition causing clotting in small blood vessels, leading to kidney failure.

Austrian syndrome

A triad of pneumonia, endocarditis, and meningitis due to Streptococcus pneumoniae.

Autoimmune disease

A condition where the immune system attacks the body's own tissues.

Autoimmune lymphoproliferative syndrome

A disorder of abnormal immune cell survival leading to lymph node swelling.

Autoimmune polyendocrine syndrome

A group of syndromes involving autoimmunity of multiple endocrine glands.

Autoimmune polyendocrine syndrome type 1

A rare disorder affecting multiple endocrine glands and mucocutaneous tissues.

Autoimmune polyendocrine syndrome type 2

A condition with autoimmune adrenalitis, thyroiditis, and/or type 1 diabetes.

Autoimmune polyendocrine syndrome type 3

Autoimmune thyroiditis with another autoimmune endocrine disease except adrenalitis.

Autoinflammatory syndromes

Conditions involving abnormal activation of the innate immune system.

Avellis syndrome

A rare medullary syndrome affecting the vagus nerve and sympathetic pathways.

Axenfeld syndrome

A developmental disorder of the eye's anterior chamber with risk of glaucoma.

Axial spondyloarthritis

A chronic inflammatory disease affecting the spine and sacroiliac joints.

Ayazi syndrome

A rare syndrome with developmental delay, skeletal, and facial anomalies.

B

Babinski–Nageotte syndrome

A brainstem stroke syndrome affecting the medulla oblongata.

Baboon syndrome

A skin eruption from systemic exposure to allergens with prior sensitization.

Baggio–Yoshinari syndrome

A Lyme-like disease described in Brazil with different microbiological agents.

Bálint's syndrome

A neurological condition with impaired visual perception and coordination.

Baller–Gerold syndrome

A rare genetic disorder with craniosynostosis and radial aplasia.

Bamforth–Lazarus syndrome

A congenital hypothyroidism disorder with cleft palate and spiky hair.

Bangstad syndrome

A rare autosomal recessive condition with growth retardation and diabetes.

Bannayan–Riley–Ruvalcaba syndrome

A genetic disorder with macrocephaly, lipomas, and developmental delay.

Banti's syndrome

Chronic congestive splenomegaly often due to portal hypertension.

Barakat-Perenthaler syndrome

A rare neurodevelopmental disorder with brain atrophy and spasticity.

Barakat syndrome

Also known as HDR syndrome: hypoparathyroidism, deafness, and renal disease.

Bardet–Biedl syndrome

A genetic condition with obesity, retinal degeneration, and polydactyly.

Bare lymphocyte syndrome

A rare primary immunodeficiency affecting antigen presentation.

Bare lymphocyte syndrome type II

A severe immunodeficiency due to absence of MHC class II expression.

Barlow's syndrome

An older term for mitral valve prolapse.

Barraquer–Simons syndrome

Acquired partial lipodystrophy leading to fat loss from the upper body.

Bart–Pumphrey syndrome

A rare genetic disorder with hearing loss and palmoplantar keratoderma.

Bart syndrome

A form of epidermolysis bullosa with aplasia cutis and nail abnormalities.

Bartter syndrome

A renal tubule disorder causing low potassium and metabolic alkalosis.

Bassen-Kornzweig syndrome

Also called abetalipoproteinemia; affects fat absorption and vitamin transport.

Battered person syndrome

A psychological condition from prolonged domestic violence.

Bazex–Dupré–Christol syndrome

A rare genetic condition with basal cell carcinomas and skin findings.

Beare–Stevenson cutis gyrata syndrome

A craniosynostosis syndrome with abnormal skin folds.

Beckwith–Wiedemann syndrome

A growth disorder with large body size, macroglossia, and increased tumor risk.

Behcet's syndrome

A multisystem inflammatory disorder causing ulcers and eye inflammation.

Behr syndrome

A neurodegenerative disorder with optic atrophy and ataxia.

Benedikt syndrome

A midbrain lesion causing third nerve palsy and tremors.

Benign fasciculation syndrome

Frequent muscle twitches without underlying disease.

Benjamin syndrome

A rare disorder with macroglossia, polydactyly, and intellectual disability.

Benzodiazepine withdrawal syndrome

Symptoms following discontinuation of benzodiazepines after prolonged use.

Berdon syndrome

A severe congenital disorder with megacystis and bowel immotility.

Berk–Tabatznik syndrome

A poorly defined syndrome possibly involving joint and skeletal anomalies.

Bernard–Soulier syndrome

A rare bleeding disorder with large platelets and low platelet count.

Berserk llama syndrome

Aggressive behavior in male llamas raised by humans.

Bhaskar–Jagannathan syndrome

A rare disorder with cleft palate, skeletal, and urogenital anomalies.

Biemond syndrome

A rare autosomal recessive disorder with eye and skeletal abnormalities.

Bilious vomiting syndrome

A canine condition with vomiting of bile, especially on an empty stomach.

Binder's syndrome

A congenital condition with midfacial hypoplasia and flat nose.

Bing–Neel syndrome

A rare complication of Waldenström's macroglobulinemia with CNS involvement.

Birt–Hogg–Dubé syndrome

A genetic disorder with skin lesions, lung cysts, and renal tumors.

Björnstad syndrome

A rare disorder with pili torti (twisted hair) and hearing loss.

Bland-White-Garland syndrome

A rare congenital heart defect where the left coronary artery arises from the pulmonary artery.

Blau syndrome

An inherited autoinflammatory disease causing arthritis, uveitis, and skin rash.

Blepharophimosis, ptosis, epicanthus inversus syndrome

A genetic disorder affecting eyelid development.

Blind loop syndrome

Bacterial overgrowth in a part of the small intestine causing malabsorption.

Bloom syndrome

A genetic disorder causing short stature, sun-sensitive skin changes, and cancer risk.

Blount's disease

A growth disorder of the tibia causing bowed legs.

Blue baby syndrome

A condition causing cyanosis in infants due to heart defects or methemoglobinemia.

Blue diaper syndrome

A rare metabolic disorder resulting in blue-stained diapers and hypercalcemia.

Blue rubber bleb nevus syndrome

A disorder with venous malformations in the skin and gastrointestinal tract.

Blue toe syndrome

A condition where emboli block small vessels in the foot causing cyanosis.

Bobble-head doll syndrome

A rare neurological condition with head bobbing due to third ventricular cysts.

Body fat redistribution syndrome

Fat changes in HIV patients on antiretroviral therapy.

Boerhaave syndrome

Spontaneous esophageal rupture due to forceful vomiting.

Bogart–Bacall syndrome

Voice strain disorder seen in people who use their voice extensively.

Bohring–Opitz syndrome

A rare syndrome with severe intellectual disability and distinctive facial features.

Bonnet–Dechaume–Blanc syndrome

A condition with facial vascular malformations and eye anomalies.

Börjeson-Forssman-Lehmann syndrome

An X-linked disorder with intellectual disability, obesity, and hypogonadism.

Bowen–Conradi syndrome

A lethal genetic disorder seen in Hutterite populations with growth restriction.

Brachycephalic airway obstructive syndrome

Breathing difficulty in flat-faced dog breeds.

Brainstem stroke syndrome

A stroke affecting the brainstem leading to motor and sensory deficits.

Branchio-oculo-facial syndrome

A genetic condition with skin, eye, and facial anomalies.

Branchio-oto-renal syndrome

A genetic disorder with ear, kidney, and neck abnormalities.

Bromism

Chronic bromide poisoning causing neurological and dermatologic symptoms.

Brown-Séquard syndrome

Spinal cord injury causing weakness and sensory loss on different sides.

Brown's syndrome

A condition limiting upward eye movement due to tendon restriction.

Brown–Vialetto–Van Laere syndrome

A rare neurological disorder with progressive hearing loss and muscle weakness.

Bruck syndrome

A rare disorder combining bone fragility with joint contractures.

Brugada syndrome

A genetic heart rhythm disorder increasing the risk of sudden death.

Brunner syndrome

A rare genetic disorder with aggressive behavior due to MAOA gene mutations.

Budd–Chiari syndrome

A liver condition caused by hepatic vein obstruction.

Burning feet syndrome

A condition causing burning pain and warmth in the feet.

Burning mouth syndrome

Chronic burning sensation in the mouth without visible abnormalities.

Burnside–Butler syndrome

A condition associated with deletions on chromosome 15q11.2 causing developmental delay.

Buschke–Ollendorff syndrome

A skin condition with connective tissue nevi and bone lesions.

C

CADASIL

A hereditary stroke disorder caused by mutations in the NOTCH3 gene.

Camera-Marugo-Cohen syndrome

A rare genetic disorder with craniofacial and developmental abnormalities.

CAMFAK syndrome

A rare neuropathy with calcifications, microcephaly, and familial inheritance.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

A rare condition involving finger curvature, joint problems, hip deformities, and heart inflammation.

Cancer-related fatigue

Persistent tiredness related to cancer or its treatment.

Cancer syndrome

A general term for inherited syndromes that increase cancer risk.

CANDLE syndrome

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature.

Canine epileptoid cramping syndrome

A neurological condition in dogs resembling seizures or cramps.

Cannabinoid hyperemesis syndrome (CHS)

Cyclic vomiting due to chronic cannabis use.

Cantú syndrome

A rare condition with coarse facial features, hypertrichosis, and heart anomalies.

Capgras delusion

A belief that loved ones have been replaced by identical impostors.

Capgras syndrome

Synonymous with Capgras delusion.

Capillary leak syndrome

A rare disorder where fluid and proteins leak from blood vessels into tissues.

Caplan's syndrome

Rheumatoid arthritis with pneumoconiosis leading to lung nodules.

Carcinoid syndrome

A group of symptoms caused by serotonin-secreting tumors.

Cardiac syndrome X

Angina-like chest pain with normal coronary arteries.

Cardiofaciocutaneous syndrome

A rare genetic disorder affecting the heart, facial features, and skin.

Cardiorenal syndrome

A disorder involving simultaneous heart and kidney dysfunction.

Cardiovascular syndrome

A broad term for diseases affecting heart and blood vessels.

Carney complex

A genetic condition with skin spots, myxomas, and endocrine tumors.

Caroli disease

A rare congenital disorder with dilated bile ducts and liver problems.

Carpal tunnel syndrome

A condition with numbness and tingling due to median nerve compression.

Carpenter syndrome

A rare craniosynostosis syndrome with extra fingers and developmental delay.

Cataract-microcornea syndrome

A rare condition with small corneas and early-onset cataracts.

Catastrophic antiphospholipid syndrome

A life-threatening variant of antiphospholipid syndrome causing widespread clotting.

Catel–Manzke syndrome

A rare genetic disorder with Pierre Robin sequence and skeletal anomalies.

Cat eye syndrome

A chromosomal disorder with coloboma, anal atresia, and heart defects.

Cauda equina syndrome

A medical emergency involving nerve compression at the lower spinal cord.

Caudal regression syndrome

A congenital condition where the lower spine fails to develop properly.

CDK13-related disorder

A condition caused by CDK13 mutation with developmental delay and facial features.

Celebrity worship syndrome

An obsessive-addictive disorder linked to intense celebrity admiration.

Central centrifugal cicatricial alopecia

A scarring hair loss condition primarily affecting women of African descent.

Central cord syndrome

A spinal cord injury causing more weakness in the arms than legs.

Central nervous system syndrome

Acute radiation syndrome affecting the brain and spinal cord.

Central pain syndrome

Chronic pain resulting from damage to the central nervous system.

Centurion syndrome

A rare eyelid disorder causing deep-set eyes and tear drainage issues.

Cerebellar cognitive affective syndrome

A disorder with cognitive and mood changes due to cerebellar damage.

Cerebellar stroke syndrome

Symptoms resulting from stroke in the cerebellum.

Cerebellopontine angle syndrome

A condition caused by tumors or lesions near the cerebellopontine angle.

Cerebral salt-wasting syndrome

A cause of low sodium due to brain injury and kidney salt loss.

Cervicocranial syndrome

A condition with head, neck, and cranial nerve symptoms from cervical spine instability.

Charcot–Marie–Tooth disease

A hereditary neuropathy causing muscle weakness and sensory loss.

CHARGE syndrome

A complex syndrome with coloboma, heart defects, atresia of choanae, and more.

Charles Bonnet syndrome

Visual hallucinations in people with significant vision loss.

Chédiak–Higashi syndrome

A rare immune disorder with albinism, infections, and nerve problems.

Chiari–Frommel syndrome

Persistent lactation and amenorrhea following childbirth.

Chiasmal syndrome

Visual deficits due to optic chiasm compression.

Chilaiditi syndrome

Gas-filled colon interposed between liver and diaphragm causing abdominal pain.

childhood myelodysplastic syndrome

A bone marrow disorder with ineffective blood cell production in children.

Childhood tumor syndrome

A group of inherited conditions predisposing children to various cancers.

Child sexual abuse accommodation syndrome

A theory explaining child sexual abuse disclosure and behavior.

CHILD syndrome

A disorder affecting one side of the body with skin and limb defects.

Chinese Restaurant Syndrome

A controversial condition with symptoms like headache and flushing after eating MSG.

Chromosomal deletion syndrome

A disorder caused by loss of chromosome segments leading to developmental defects.

Chromosome 5q deletion syndrome

A myelodysplastic syndrome with loss of part of the long arm of chromosome 5.

Chronic fatigue syndrome

A condition marked by extreme fatigue that can’t be explained by underlying conditions.

Chronic functional abdominal pain

Persistent abdominal pain in children without a known physical cause.

Chronic infantile neurologic cutaneous and articular syndrome

A rare autoinflammatory disease affecting the brain, skin, and joints.

Chronic Lyme disease

A controversial diagnosis for long-term symptoms following Lyme disease.

Chronic prostatitis/chronic pelvic pain syndrome

Pelvic pain and urinary symptoms without bacterial infection.

Churg–Strauss syndrome

Now called eosinophilic granulomatosis with polyangiitis; involves asthma and vasculitis.

Claude's syndrome

A brainstem stroke syndrome with third nerve palsy and cerebellar ataxia.

Clinically isolated syndrome

A first neurological episode suggestive of multiple sclerosis.

CLOVES syndrome

Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies.

COACH syndrome

A genetic disorder with cerebellar hypoplasia, liver disease, and developmental delay.

Cobb syndrome

A rare condition linking skin lesions with spinal vascular anomalies.

Cockayne syndrome

A genetic disorder causing growth failure, premature aging, and photosensitivity.

Coffin–Lowry syndrome

An X-linked disorder with intellectual disability, facial features, and skeletal anomalies.

Coffin–Siris syndrome

A developmental disorder with intellectual disability, coarse facial features, and nail hypoplasia.

Cogan syndrome

An autoimmune disease with eye inflammation and hearing loss.

Cohen syndrome

A condition with developmental delay, hypotonia, and facial features.

Compartment syndrome

A surgical emergency where pressure builds in a muscle compartment, compromising blood flow.

Complement deficiency

Immune system disorders caused by deficient complement proteins.

Complete androgen insensitivity syndrome

A condition where genetically male individuals are resistant to male hormones.

Complex regional pain syndrome

A chronic pain condition usually affecting a limb after injury.

Computer vision syndrome

Eye strain from prolonged computer use.

Conductive deafness-ptosis-skeletal anomalies syndrome

A rare syndrome involving hearing loss, drooping eyelids, and bone anomalies.

Congenital bilateral perisylvian syndrome

A condition with seizures and impaired oral motor function due to cortical malformation.

Congenital contractural arachnodactyly

A connective tissue disorder with long fingers and joint contractures.

Congenital generalized lipodystrophy

A disorder where body fat is nearly absent from birth.

Congenital insensitivity to pain

A rare condition where affected individuals feel no pain.

Congenital myasthenic syndrome

A group of inherited disorders impairing signal transmission at the neuromuscular junction.

Congenital nephrotic syndrome

A kidney disorder present at birth causing protein loss in urine.

Congenital rubella syndrome

Birth defects resulting from maternal rubella infection during pregnancy.

Conn's syndrome

Primary hyperaldosteronism due to adrenal adenoma causing high blood pressure.

Conorenal syndrome

A rare genetic condition with eye and kidney anomalies.

Conradi–Hünermann syndrome

A skeletal dysplasia with ichthyosis and asymmetric bone growth.

Constriction ring syndrome

A condition where amniotic bands entrap fetal limbs causing malformations.

Contiguous gene syndrome

A disorder caused by deletion or duplication of multiple adjacent genes.

Conus medullaris syndrome

A spinal cord disorder affecting the lower limbs and bladder.

Cooks syndrome

A rare syndrome with nail and limb abnormalities.

Cord colitis syndrome

An inflammatory condition of the colon post stem cell transplantation.

Corneal-cerebellar syndrome

A rare condition with corneal opacity and cerebellar ataxia.

Corneal dystrophy-perceptive deafness syndrome

A genetic disorder with eye and hearing defects.

Cornelia de Lange Syndrome

A developmental disorder with facial features, limb defects, and growth delay.

Corneodermatoosseous syndrome

A condition involving skin, cornea, and bone abnormalities.

Coronary steal

A phenomenon where blood flow is diverted from a coronary artery due to vasodilation.

Costeff syndrome

A mitochondrial disorder with optic atrophy and movement abnormalities.

Costello syndrome

A condition with developmental delay, loose skin, and increased tumor risk.

Cotard's Syndrome

Same as Cotard delusion; nihilistic delusions of nonexistence or immortality.

Cotton fever

A febrile reaction caused by intravenous injection of reused cotton filters.

Cowden syndrome

A genetic disorder with multiple noncancerous, tumor-like growths and increased cancer risk.

Cracked tooth syndrome

Pain from an incomplete fracture of a tooth, typically during biting.

Cramp fasciculation syndrome

A rare nerve hyperexcitability disorder causing cramps and twitching.

Crandall syndrome

A rare disorder with hearing loss, hypogonadism, and hair anomalies.

Cranio-lenticulo-sutural dysplasia

A skeletal disorder causing delayed skull ossification and cataracts.

Craniosynostosis–anal anomalies–porokeratosis syndrome

A rare syndrome with skull, anal, and skin malformations.

CREST syndrome

A limited form of scleroderma with Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, and Telangiectasia.

Cri du chat

A chromosomal disorder (5p deletion) with intellectual disability and a cat-like cry in infants.

Crigler–Najjar syndrome

A rare genetic liver disorder affecting bilirubin metabolism, causing jaundice.

Crome syndrome

A lethal syndrome with neurological and renal anomalies in infants.

Cronkhite–Canada syndrome

A rare acquired condition with GI polyps, hair loss, nail atrophy, and diarrhea.

Cross syndrome

A rare disorder with intellectual disability and vision/hearing problems.

Crouzonodermoskeletal syndrome

A variant of Crouzon syndrome with skin and skeletal anomalies.

Crouzon syndrome

A genetic disorder causing premature fusion of skull bones (craniosynostosis).

Crush syndrome

A medical condition after compression injury leading to muscle breakdown and kidney failure.

Cruveilhier-Baumgarten syndrome

A condition with umbilical vein recanalization due to portal hypertension.

Cryopyrin-associated periodic syndrome

A group of rare inherited autoinflammatory diseases involving fever and rash.

Cryptorchidism-arachnodactyly-intellectual disability syndrome

A rare syndrome involving undescended testes, long fingers, and intellectual disability.

Cuboid syndrome

A foot condition involving displacement of the cuboid bone, causing lateral foot pain.

Currarino syndrome

A congenital condition with anorectal malformation, sacral bone defect, and presacral mass.

Cushing's syndrome

A disorder caused by excess cortisol, leading to weight gain, high blood pressure, and skin changes.

Cyclic vomiting syndrome

A condition with repeated episodes of severe nausea and vomiting.

Cytokine release syndrome

A systemic inflammatory response often seen after immunotherapy, causing fever and organ dysfunction.

D

Da Costa's syndrome

A historical term for a functional heart disorder with chest pain and fatigue.

Daentl Townsend Siegel syndrome

A rare genetic disorder with craniofacial and skeletal anomalies.

Dahlberg Borer Newcomer syndrome

A rare inherited disorder involving cardiac, facial, and limb anomalies.

Dandy–Walker syndrome

A congenital brain malformation involving the cerebellum and fluid-filled spaces.

Dead arm syndrome

Recurrent shoulder instability, often in overhead athletes.

De Barsy syndrome

A rare condition with progeroid appearance, skin laxity, and developmental delay.

de Clérambault's syndrome

Erotomania; a delusional belief that someone is in love with the individual.

Deficiency of the interleukin-1–receptor antagonist

A genetic autoinflammatory disorder with severe joint and skin inflammation.

Degenerative disc disease

A condition where intervertebral discs lose flexibility and cushioning.

Dejerine–Roussy syndrome

A pain syndrome following a thalamic stroke.

Delayed sleep phase disorder

A circadian rhythm disorder with a delayed sleep-wake cycle.

Delusional misidentification syndrome

A group of delusional beliefs involving mistaken identity.

Delusional parasitosis

A psychiatric condition where individuals falsely believe they are infested with parasites.

Dennie–Marfan syndrome

A disorder involving allergic shiners and atopic dermatitis.

Dentomandibular sensorimotor dysfunction

A disorder causing pain and dysfunction in jaw muscles and nerves.

Denys–Drash syndrome

A rare condition with kidney disease, gonadal dysgenesis, and high Wilms tumor risk.

De Quervain syndrome

A painful condition affecting the tendons on the thumb side of the wrist.

DeSanctis–Cacchione syndrome

A severe variant of xeroderma pigmentosum with neurological impairment.

Descending perineum syndrome

A condition where the perineum descends abnormally, leading to pelvic floor dysfunction.

De Winter syndrome

An ECG pattern that indicates a proximal LAD coronary artery occlusion.

Diabetic stiff hand syndrome

Limited joint mobility in long-standing diabetes.

Dialysis disequilibrium syndrome

A neurological disorder due to rapid changes during dialysis.

Diencephalic syndrome

A rare cause of failure to thrive due to hypothalamic tumors.

Diffuse infiltrative lymphocytosis syndrome

An HIV-associated disorder resembling Sjögren syndrome.

DiGeorge syndrome

A disorder caused by 22q11.2 deletion with cardiac, immune, and facial abnormalities.

Diogenes syndrome

Severe self-neglect, hoarding, and social withdrawal in the elderly.

Diploid-triploid mosaicism

A chromosomal disorder with a mix of normal and triploid cells.

Disconnection syndrome

Neurological impairments caused by disrupted brain communication pathways.

Distal 18q-

A chromosomal deletion disorder with developmental delay and physical anomalies.

Distal intestinal obstruction syndrome

Bowel obstruction in cystic fibrosis patients.

Distal trisomy 10q

A rare chromosomal disorder with multiple congenital anomalies.

Doege–Potter syndrome

A paraneoplastic syndrome with hypoglycemia due to solitary fibrous tumors.

Donnai–Barrow syndrome

A rare genetic disorder with facial features, hearing loss, and diaphragmatic hernia.

Donohue syndrome

A severe insulin receptor disorder with growth retardation and dysmorphic features.

DOOR syndrome

Deafness, onychodystrophy, osteodystrophy, and intellectual disability.

Dopamine dysregulation syndrome

A compulsive medication use disorder in Parkinson's patients.

Down syndrome

A genetic disorder caused by trisomy 21 with intellectual disability and characteristic features.

Dravet syndrome

A severe epilepsy syndrome beginning in infancy.

Dressler syndrome

Post-myocardial infarction pericarditis.

Drug reaction with eosinophilia and systemic symptoms

A severe drug-induced hypersensitivity reaction affecting multiple organs.

Dry eye syndrome

A condition where the eyes do not produce enough tears or evaporate too quickly.

Duane-radial ray syndrome

A syndrome involving Duane syndrome and limb anomalies.

Duane syndrome

A congenital eye movement disorder affecting horizontal gaze.

Dubin–Johnson syndrome

A benign liver disorder causing conjugated hyperbilirubinemia.

Dubowitz syndrome

A genetic condition with growth delay, microcephaly, and facial anomalies.

Dumping syndrome

Rapid gastric emptying causing GI and vasomotor symptoms post-surgery.

Dysexecutive syndrome

A condition affecting executive functions such as planning and decision-making.

Dyskeratosis congenita

A rare disorder with skin pigmentation, nail dystrophy, and marrow failure.

Dysplastic nevus syndrome

A condition with atypical moles and increased melanoma risk.

E

Eagle syndrome

A condition caused by an elongated styloid process, leading to throat and neck pain.

Ectrodactyly–ectodermal dysplasia–cleft syndrome

A genetic disorder with limb malformations, cleft lip/palate, and ectodermal dysplasia.

Edwards syndrome

Trisomy 18; a chromosomal disorder causing severe developmental and physical abnormalities.

EEM syndrome

A rare genetic condition featuring ectodermal dysplasia, ectrodactyly, and macular dystrophy.

Egg drop syndrome

A viral infection in poultry causing reduced egg production and shell quality.

Ehlers–Danlos syndrome

A group of connective tissue disorders with joint hypermobility, skin elasticity, and fragility.

Eiken syndrome

A very rare bone dysplasia with delayed ossification and abnormal bone modeling.

Einstein syndrome

A term used for children with late language onset but high analytical abilities.

Eisenmenger's syndrome

A complication of congenital heart defects leading to pulmonary hypertension and cyanosis.

Eldomery-Sutton syndrome

A rare condition involving developmental delay, seizures, and skeletal abnormalities.

Elejalde syndrome

A neuroectodermal disorder with pigmentary dilution and severe neurological impairment.

Ellis–van Creveld syndrome

A genetic disorder with short limbs, extra fingers, and heart defects.

Emanuel syndrome

A chromosomal condition involving developmental delay and craniofacial abnormalities.

Empty nest syndrome

Emotional distress experienced by parents after children leave home.

Empty nose syndrome

Paradoxical nasal obstruction after turbinate surgery.

Empty sella syndrome

A condition where the pituitary gland shrinks or flattens inside the sella turcica.

Enlarged vestibular aqueduct syndrome

A common cause of progressive sensorineural hearing loss in children.

Environmental dependency syndrome

A neurological condition with imitation or utilization behavior triggered by surroundings.

Eosinophilia–myalgia syndrome

A rare disorder linked to contaminated tryptophan supplements, causing muscle pain and eosinophilia.

Eosinophilic cellulitis

Also known as Wells syndrome; recurrent, itchy, and inflamed skin lesions.

Epidermal nevus syndrome

A group of disorders with epidermal nevi and involvement of other systems like brain or eyes.

Epilepsy syndromes

A group of conditions with recurrent seizures and specific EEG patterns.

Episodic dyscontrol syndrome

Sudden outbursts of aggressive behavior, often without clear provocation.

Epizootic ulcerative syndrome

A disease in fish caused by fungal and bacterial pathogens.

Erdheim–Chester disease

A rare multisystem disorder characterized by abnormal histiocyte accumulation.

Erondu–Cymet syndrome

A rare disorder involving musculoskeletal abnormalities and other systemic features.

Estrogen insensitivity syndrome

A rare condition where the body cannot respond to estrogen.

Euthyroid sick syndrome

Abnormal thyroid function tests during severe illness without intrinsic thyroid disease.

Evans syndrome

An autoimmune disorder causing destruction of red cells, white cells, and platelets.

Excess ovarian androgen release syndrome

A hormonal disorder leading to excess androgen production in the ovaries.

Exploding head syndrome

A sleep disorder characterized by loud imagined noises during sleep transitions.

Extrapyramidal symptoms

Drug-induced movement disorders including tremors, rigidity, and bradykinesia.

F

FACES syndrome

A developmental disorder affecting the face, heart, and brain.

Facet syndrome

Pain from degeneration or injury to the spinal facet joints.

Facial Onset Sensory Motor Neuropathy syndrome

A rare motor neuron disease starting with facial numbness.

Fahr's syndrome

A condition with abnormal calcium deposits in the brain.

Failed back syndrome

Chronic pain following unsuccessful back surgery.

Familial Adenomatous Polyposis

An inherited condition causing numerous colon polyps and cancer risk.

Familial cold autoinflammatory syndrome

An inherited disorder causing rash, fever, and joint pain after cold exposure.

Familial Mediterranean fever

A genetic disorder with recurrent fevers and abdominal pain.

Familial partial lipodystrophy

A condition with abnormal fat distribution and insulin resistance.

Fanconi syndrome

A kidney disorder with loss of nutrients in urine.

Favre–Racouchot syndrome

A skin condition with cysts and comedones, mainly in sun-exposed areas.

Febrile infection-related epilepsy syndrome

Severe epilepsy beginning after a febrile illness.

Febrile neutrophilic dermatosis

Also known as Sweet syndrome; features fever and skin lesions.

Fechtner syndrome

A rare disorder with kidney disease, hearing loss, and platelet abnormalities.

Feingold syndrome

A genetic disorder with microcephaly, limb defects, and developmental delays.

Feline hyperesthesia syndrome

A bizarre behavioral disorder in cats with skin twitching and sensitivity.

Felty's syndrome

Rheumatoid arthritis with enlarged spleen and low white blood cells.

Femur fibula ulna syndrome

A condition with limb deficiencies affecting femur, fibula, and ulna.

Fetal alcohol syndrome

A preventable birth defect from alcohol exposure during pregnancy.

Fetal hydantoin syndrome

Birth defects from maternal use of hydantoin anticonvulsants.

Fetal trimethadione syndrome

Congenital malformations due to maternal use of trimethadione.

Fetal valproate syndrome

Birth defects associated with prenatal exposure to valproic acid.

Fetal warfarin syndrome

Skeletal and facial abnormalities from warfarin exposure in utero.

FG syndrome

A genetic disorder with intellectual disability and hypotonia.

Fibrinolysis syndrome

Excessive breakdown of blood clots causing bleeding.

Fibromyalgia syndrome

Chronic widespread musculoskeletal pain and fatigue.

First arch syndrome

Developmental anomalies from abnormal first pharyngeal arch development.

Fish acute toxicity syndrome

Toxic reaction in fish due to sudden environmental changes.

Fitz-Hugh–Curtis syndrome

Perihepatitis associated with pelvic inflammatory disease.

Fitzsimmons–Guilbert syndrome

A rare genetic disorder with skeletal and urogenital anomalies.

Flammer syndrome

A vascular condition associated with cold extremities and low blood pressure.

Fleischer's syndrome

A rare condition with digital clubbing and osteoarthropathy.

Floating–Harbor syndrome

A disorder with delayed bone age, speech delay, and facial features.

Floppy eyelid syndrome

Loose upper eyelids associated with sleep apnea and obesity.

Floppy trunk syndrome

Hypotonia affecting the trunk muscles, often from neurological disorders.

Florid cutaneous papillomatosis

A paraneoplastic syndrome with numerous skin papillomas.

Flynn–Aird syndrome

A neurological disorder with ataxia, spasticity, and cognitive impairment.

Foal immunodeficiency syndrome

A fatal immune disorder in horses causing recurrent infections.

Foerster's syndrome

A neurological condition with pyramidal tract symptoms and tremor.

Foix–Alajouanine syndrome

A spinal cord disorder with venous malformation and ischemia.

Foix–Chavany–Marie syndrome

A rare condition with voluntary facial paralysis and preserved reflexes.

Folie à deux

Shared psychotic disorder between two or more individuals.

Follicle-stimulating hormone insensitivity

A condition causing infertility due to FSH receptor mutations.

Forbes-Albright syndrome

Hyperprolactinemia causing amenorrhea and galactorrhea.

Foreign accent syndrome

A rare speech disorder following brain injury.

Foster–Kennedy syndrome

Optic atrophy in one eye and papilledema in the other due to brain tumor.

Fountain syndrome

A rare disorder with deafness, mental retardation, and skeletal anomalies.

Foville's syndrome

Brainstem stroke syndrome with facial palsy and eye movement abnormalities.

Fragile X-associated tremor/ataxia syndrome

A late-onset neurodegenerative disorder related to Fragile X.

Fragile X syndrome

A common inherited cause of intellectual disability.

Franceschetti–Klein syndrome

Also known as Treacher Collins syndrome; affects craniofacial development.

Frank–ter Haar syndrome

A genetic disorder with skeletal anomalies, glaucoma, and heart defects.

Fraser syndrome

A genetic condition with cryptophthalmos and other congenital malformations.

Frasier syndrome

A disorder with gonadal dysgenesis and kidney disease.

Freeman–Sheldon syndrome

A condition with facial contractures and limb deformities.

Frey's syndrome

Sweating while eating due to nerve injury near the parotid gland.

Froin's syndrome

Xanthochromic and coagulated cerebrospinal fluid due to spinal cord blockage.

Fryns syndrome

A multiple congenital anomaly syndrome with diaphragmatic hernia.

Functional somatic syndrome

Physical symptoms not explained by medical conditions.

G

Gaisböck syndrome

A condition with elevated red cell mass and blood volume in hypertensive men.

Galloway Mowat syndrome

A rare genetic disorder with microcephaly, nephrotic syndrome, and developmental delay.

GAPO syndrome

A rare genetic disorder with growth retardation, alopecia, pseudoanodontia, and optic atrophy.

Gardner's syndrome

A genetic disorder causing colorectal polyps, cysts, and tumors.

Gastric outlet obstruction

A condition where the stomach empties poorly due to blockage.

Gastrocutaneous syndrome

A rare condition with GI anomalies, skin findings, and facial anomalies.

Gastrointestinal syndrome

Radiation injury affecting the GI tract with nausea, diarrhea, and sepsis.

Genitopatellar syndrome

A rare syndrome with absent patellae, genital anomalies, and intellectual disability.

Gerstmann–Sträussler–Scheinker syndrome

A rare genetic prion disease with ataxia and dementia.

Gerstmann syndrome

A neurological disorder with agraphia, acalculia, finger agnosia, and left-right disorientation.

Geschwind syndrome

A behavioral syndrome associated with temporal lobe epilepsy.

Gianotti–Crosti syndrome

A self-limiting viral rash in children involving limbs and face.

Giant platelet disorder

A group of disorders with abnormally large platelets and bleeding issues.

Gilbert's syndrome

A benign liver disorder causing mild jaundice due to bilirubin buildup.

Gillespie syndrome

A rare genetic disorder with partial aniridia, ataxia, and intellectual disability.

Gitelman syndrome

A genetic kidney disorder with low potassium and magnesium levels.

Gleich's syndrome

A rare disorder with episodic angioedema, eosinophilia, and weight gain.

GMS syndrome

A condition with goniodysgenesis, intellectual disability, and short stature.

Goldberg–Shprintzen syndrome

A genetic disorder with Hirschsprung disease and facial anomalies.

Goldenhar syndrome

A condition with craniofacial anomalies and vertebral defects.

Gomez and López-Hernández syndrome

A rare condition with cerebellar abnormalities and alopecia.

Gonadotropin insensitivity

A hormonal disorder where the body does not respond to LH/FSH.

Gonadotropin-releasing hormone insensitivity

Causes hypogonadotropic hypogonadism and delayed puberty.

Goodpasture syndrome

An autoimmune disease with lung bleeding and kidney failure.

Gordon syndrome

A genetic disorder with stiff joints and limb contractures.

Gougerot–Blum syndrome

A type of chronic pigmented purpuric dermatosis.

Gourmand syndrome

A neurological syndrome involving sudden craving for fine food after brain injury.

Gouverneur's syndrome

Symptoms of bladder irritation caused by rectal disease like fistula.

GRACILE syndrome

A mitochondrial disorder with growth retardation and early death.

Graham-Little syndrome

A rare form of lichen planopilaris with scalp scarring and hair loss.

Gray baby syndrome

Toxic reaction to chloramphenicol in neonates due to immature liver.

Gray platelet syndrome

A rare bleeding disorder with large platelets lacking alpha granules.

Greater trochanteric pain syndrome

Pain over the lateral hip due to bursa or tendon inflammation.

Green nail syndrome

A bacterial infection of the nails causing green discoloration.

Greig cephalopolysyndactyly syndrome

A genetic disorder with extra digits and craniofacial anomalies.

Grinspan's syndrome

A triad of oral lichen planus, diabetes, and hypertension.

Griscelli syndrome

A rare autosomal recessive disorder with partial albinism and neurologic issues.

Griscelli syndrome type 2

A rare disorder with immunodeficiency and pigmentary dilution.

Griscelli syndrome type 3

A milder form with pigmentary dilution but no immune problems.

Grisel's syndrome

Non-traumatic subluxation of the cervical spine often after infection or surgery.

Growing teratoma syndrome

Growth of benign tumor mass during or after chemotherapy for germ cell tumor.

Guillain–Barré syndrome

An autoimmune condition causing rapid-onset muscle weakness and paralysis.

Gulf War syndrome

A chronic multisymptom illness affecting veterans of the 1991 Gulf War.

H

Haber syndrome

A rare genetic condition with facial seborrheic keratoses and comedones.

Hagemoser–Weinstein–Bresnick syndrome

A neurodegenerative disorder with optic atrophy and ataxia.

Haglund's syndrome

Heel pain caused by bony enlargement and soft tissue irritation at the Achilles tendon.

Haim–Munk syndrome

A genetic condition with palmoplantar keratoderma, periodontitis, and arachnodactyly.

Hajdu–Cheney syndrome

A skeletal disorder with bone resorption and craniofacial anomalies.

Halal syndrome

A rare genetic syndrome with cleft lip/palate, polydactyly, and intellectual disability.

Hallermann–Streiff syndrome

A condition with facial anomalies, dental defects, and dwarfism.

Hamman-Rich syndrome

Another name for acute interstitial pneumonia, a rapidly progressive lung condition.

Hamman's syndrome

Spontaneous air leakage into the mediastinum and subcutaneous tissues.

Hand-foot-genital syndrome

A condition with limb anomalies and urogenital malformations.

Handigodu syndrome

A familial skeletal dysplasia found in southern India.

Hanhart syndrome

A congenital condition with underdeveloped tongue, limbs, and facial anomalies.

Hantavirus pulmonary syndrome

A severe respiratory disease caused by hantavirus infection.

Hapnes Boman Skeie syndrome

A rare disorder with intellectual disability and craniofacial anomalies.

Harlequin syndrome

A condition with unilateral facial flushing and sweating due to autonomic dysfunction.

Harrison syndrome

An outdated term possibly referring to congenital limb anomalies.

Harris platelet syndrome

A benign inherited condition with large platelets and mild thrombocytopenia.

Havana syndrome

A set of unexplained symptoms experienced by diplomats, including dizziness and hearing loss.

Hay–Wells syndrome

Also called AEC syndrome; involves skin erosions, cleft palate, and hair abnormalities.

Hearing loss with craniofacial syndromes

Hearing impairment associated with syndromes affecting facial structure.

HEC syndrome

A condition combining hydrocephalus, endocardial fibroelastosis, and cataracts.

Heel pad syndrome

Pain under the heel due to thinning or degeneration of the heel fat pad.

Heel spur syndrome

Chronic heel pain due to calcaneal bone spur and inflammation.

Heerfordt syndrome

A manifestation of sarcoidosis with facial nerve palsy, uveitis, and parotid swelling.

HELLP syndrome

A pregnancy complication with hemolysis, elevated liver enzymes, and low platelets.

Hemihyperplasia–multiple lipomatosis syndrome

A rare condition with asymmetric body growth and multiple fatty tumors.

Hemimegalencephaly

A rare congenital brain anomaly with enlargement of one cerebral hemisphere.

Hemispatial neglect

A neurological deficit with inattention to one side of space, often post-stroke.

Hemoglobin Lepore syndrome

A hemoglobinopathy causing anemia and similar symptoms to beta-thalassemia.

Hemolytic-uremic syndrome

A condition with hemolytic anemia, thrombocytopenia, and kidney failure.

Hennekam syndrome

A disorder with lymphedema, intestinal lymphangiectasia, and intellectual disability.

Hepatopulmonary syndrome

A liver disease complication causing low oxygen levels due to lung blood vessel dilation.

Hepatorenal syndrome

Kidney failure in patients with severe liver disease.

Hereditary breast–ovarian cancer syndrome

A genetic predisposition to breast and ovarian cancers, often due to BRCA mutations.

Hereditary hyperbilirubinemia

A group of conditions causing elevated bilirubin, such as Gilbert syndrome.

Hereditary leiomyomatosis and renal cell cancer syndrome

A condition with skin tumors, uterine fibroids, and kidney cancer.

Hereditary neuralgic amyotrophy

An episodic condition with nerve pain and muscle weakness in the shoulder.

Hereditary nonpolyposis colorectal cancer

Also known as Lynch syndrome; increases risk of colon and other cancers.

Hermansky–Pudlak syndrome

A genetic disorder with albinism, bleeding tendency, and lung disease.

Hero syndrome

A psychological condition where individuals intentionally create crises to act as rescuers.

Heyde's syndrome

A condition linking aortic stenosis with gastrointestinal bleeding from angiodysplasia.

HHH syndrome

A metabolic disorder involving hyperornithinemia, hyperammonemia, and homocitrullinuria due to ornithine transport defec...

High-rise syndrome

Injuries sustained by cats falling from buildings, typically over two stories.

HIV/AIDS

A viral infection that leads to immune system failure and opportunistic infections.

Ho–Kaufman–Mcalister syndrome

A poorly documented syndrome with multiple congenital anomalies.

Holiday heart syndrome

Cardiac arrhythmias triggered by excessive alcohol intake, usually during holidays.

Holt–Oram syndrome

A genetic disorder causing heart defects and upper limb abnormalities.

Horner's syndrome

A neurological condition with ptosis, miosis, and anhidrosis due to sympathetic nerve damage.

Horn-Kolb syndrome

A rare disorder with ocular and systemic developmental abnormalities.

Howel–Evans syndrome

A genetic condition with palmoplantar keratoderma and risk of esophageal cancer.

Hoyeraal-Hreidarsson syndrome

A severe variant of dyskeratosis congenita with immunodeficiency and cerebellar hypoplasia.

Hughes–Stovin syndrome

A rare disorder with deep vein thrombosis and pulmonary artery aneurysms.

Hunan hand syndrome

Occupational contact dermatitis seen in workers handling chili peppers.

Hunter syndrome

A mucopolysaccharidosis type II causing developmental delay and organ damage.

Huntington's disease-like syndrome

Conditions mimicking Huntington's disease symptoms but with different genetic causes.

HUPRA syndrome

A rare mitochondrial disorder with hyperuricemia, pulmonary hypertension, and renal failure.

Hurler–Scheie syndrome

An intermediate form of mucopolysaccharidosis type I with milder symptoms than Hurler.

Hurler syndrome

A severe form of mucopolysaccharidosis type I with progressive developmental delay.

Hutchinson–Gilford progeria syndrome

A rare genetic disorder causing rapid aging in children.

Hydrolethalus syndrome

A lethal congenital malformation syndrome with hydrocephalus and facial anomalies.

Hyper-IgD syndrome

An autoinflammatory condition with fever, lymphadenopathy, and elevated IgD levels.

Hyper IgM syndrome

An immunodeficiency where B cells can't switch from IgM to other immunoglobulin types.

Hyper-IgM syndrome type 1

Caused by CD40L gene mutation; leads to severe immunodeficiency.

Hyper-IgM syndrome type 2

Caused by AID gene mutation; results in defective immunoglobulin switching.

Hyper-IgM syndrome type 3

Due to CD40 gene mutation; resembles type 1 but different genetic cause.

Hyper-IgM syndrome type 4

A rarer variant with unknown mechanism.

Hyper-IgM syndrome type 5

Associated with mutations in UNG gene; leads to abnormal DNA repair.

Hyperimmunoglobulin D syndrome

Synonym for Hyper-IgD syndrome; recurrent fever and inflammation.

Hyperimmunoglobulin E syndrome

Also known as Job syndrome; features eczema, recurrent infections, and high IgE.

Hypermobility syndrome

Joint hypermobility causing pain and musculoskeletal symptoms.

Hyperosmolar syndrome

A diabetic emergency with very high blood sugar and dehydration.

Hyperprolactinaemia

Excess prolactin hormone causing menstrual disturbances and galactorrhea.

Hyperprolactinemic SAHA syndrome

A variant of SAHA syndrome with hyperprolactinemia causing skin and hair changes.

Hypertension and brachydactyly syndrome

A genetic condition with short fingers and severe hypertension.

Hypertrichosis cubiti

Abnormal hair growth on the elbows; may occur in isolation or with syndromes.

Hyperventilation syndrome

Over-breathing causing lightheadedness, tingling, and anxiety.

Hyperviscosity syndrome

Thickened blood causing vision issues, bleeding, and neurological symptoms.

Hypohidrotic ectodermal dysplasia

A genetic disorder with sparse hair, teeth abnormalities, and reduced sweating.

Hypoplastic left heart syndrome

A congenital heart defect where the left heart is underdeveloped.

Hypoplastic right heart syndrome

A rare condition with underdevelopment of the right heart structures.

Hypotonia

Reduced muscle tone leading to floppiness; can be a symptom of many conditions.

Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome

An ultra-rare condition affecting hair, bones, nails, and gums.

Hypotrichosis–lymphedema–telangiectasia syndrome

A rare disorder with sparse hair, swelling of limbs, and skin capillary abnormalities.

Hystrix-like ichthyosis–deafness syndrome

A genetic disorder with thickened spiky skin and hearing loss.

I

Ichthyosis follicularis with alopecia and photophobia syndrome

A rare genetic condition with dry skin, hair loss, and light sensitivity.

Ichthyosis prematurity syndrome

A rare inherited disorder with premature birth, respiratory distress, and scaly skin.

Idiopathic pneumonia syndrome

A form of lung injury without infection, often after bone marrow transplantation.

Idiopathic postprandial syndrome

Symptoms similar to hypoglycemia occurring after meals but without low blood sugar.

Idiopathic pure sudomotor failure

A rare disorder causing complete loss of sweating ability.

Iliotibial band syndrome

A common cause of knee pain in runners due to friction of the iliotibial band.

Imerslund–Gräsbeck syndrome

A rare cause of vitamin B12 deficiency due to selective malabsorption.

Immersion foot syndromes

Trench foot and related conditions caused by prolonged foot exposure to moisture.

Immune reconstitution inflammatory syndrome

A paradoxical worsening of symptoms during immune system recovery.

Immunodeficiency–centromeric instability–facial anomalies syndrome

A rare autosomal recessive disorder with immune deficiency and dysmorphic features.

Impingement syndrome

A condition where shoulder tendons are compressed, causing pain and inflammation.

Imposter syndrome

A psychological pattern where individuals doubt their accomplishments.

Incontinentia pigmenti

A genetic disorder affecting the skin, hair, teeth, and central nervous system.

Infant respiratory distress syndrome

A breathing disorder in premature infants due to lack of surfactant.

Inferior vena cava syndrome

Obstruction of the IVC leading to swelling and venous congestion.

Infertility in polycystic ovary syndrome

Impaired fertility due to hormonal imbalance and anovulation.

Influenza-like illness

A clinical diagnosis with fever, cough, and fatigue resembling the flu.

Institutional syndrome

Behavioral and psychological effects from long-term institutionalization.

Intersection syndrome

A repetitive strain injury affecting the forearm and wrist.

Interstitial cystitis

A chronic bladder condition causing pain and urinary urgency.

Intracranial hypertension syndrome

Elevated pressure inside the skull, often without an identifiable cause.

Intraoperative floppy iris syndrome

A complication during cataract surgery, often linked to tamsulosin use.

Intravenous marijuana syndrome

A rare condition involving injection of marijuana extracts leading to severe effects.

IPEX syndrome

A rare genetic autoimmune disorder affecting multiple organs.

Iridocorneal endothelial syndrome

A rare eye condition affecting the cornea and iris leading to glaucoma.

Irlen syndrome

A controversial visual processing disorder causing light sensitivity and reading difficulties.

Irregular sleep–wake rhythm

A circadian rhythm disorder with fragmented sleep and no clear pattern.

Irritable bladder syndrome

A condition with urinary urgency, frequency, and pelvic discomfort.

Irritable bowel syndrome

A functional gastrointestinal disorder with abdominal pain and altered bowel habits.

Irritable male syndrome

Mood disturbances in men linked to hormonal changes, particularly low testosterone.

Irukandji syndrome

A painful reaction to jellyfish stings causing muscle cramps and hypertension.

Irvine–Gass syndrome

Cystoid macular edema occurring after cataract surgery.

J

Jackson–Weiss syndrome

A genetic disorder with craniosynostosis and foot abnormalities.

Jacobsen syndrome

A chromosomal deletion disorder causing developmental delay and bleeding issues.

Jaffe–Campanacci syndrome

A rare condition with multiple bone lesions and skin pigmentation.

Jalili syndrome

A genetic disorder combining cone-rod dystrophy and amelogenesis imperfecta.

Jansen's metaphyseal chondrodysplasia

A skeletal disorder with short stature and abnormal bone growth.

Janz syndrome

Another name for juvenile myoclonic epilepsy.

Jeavons syndrome

A childhood epilepsy with eyelid myoclonia and photosensitivity.

Jerusalem syndrome

A psychiatric condition involving religious-themed obsessions in Jerusalem visitors.

Jervell and Lange-Nielsen syndrome

A genetic disorder with long QT syndrome and congenital deafness.

Johanson–Blizzard syndrome

A rare condition with pancreatic insufficiency and facial abnormalities.

Johnson–McMillin syndrome

A rare disorder with hearing loss, vision problems, and white forelock.

Johnson–Munson syndrome

A poorly documented genetic syndrome with limited clinical description.

Joubert syndrome

A condition with brain malformation, breathing abnormalities, and ataxia.

Juberg-Hellman syndrome

A genetic disorder with cleft lip, polydactyly, and developmental delay.

Jugular foramen syndrome

Also known as Vernet syndrome; involves cranial nerves IX–XI.

Juvenile polyposis syndrome

An inherited condition causing numerous polyps in the gastrointestinal tract.

K

Kabuki syndrome

A congenital disorder with facial features, skeletal anomalies, and intellectual disability.

Kallmann syndrome

A genetic condition with delayed puberty and impaired sense of smell.

Kapur–Toriello syndrome

A rare disorder with cleft lip, heart defects, and developmental delay.

Karak syndrome

A rare neurological disorder with progressive ataxia and eye movement abnormalities.

Karsch-Neugebauer syndrome

A congenital disorder with cleft palate and absence of fingers or toes.

Kartagener's syndrome

A disorder with chronic respiratory infections, situs inversus, and infertility.

Kasabach–Merritt syndrome

A vascular tumor with thrombocytopenia and coagulopathy.

Katz syndrome

A rare condition combining ectodermal dysplasia and other anomalies.

Kaufman oculocerebrofacial syndrome

A disorder with ocular, cerebral, and facial anomalies.

Kearns–Sayre syndrome

A mitochondrial disorder with progressive external ophthalmoplegia and heart block.

Keppen–Lubinsky syndrome

A rare condition with distinctive facial features and severe developmental delay.

Keratitis–ichthyosis–deafness syndrome

A genetic disorder with corneal inflammation, skin scaling, and hearing loss.

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome

A very rare genetic skin disorder.

Keutel syndrome

A disorder with abnormal cartilage calcification and hearing loss.

Khyâl cap

A culture-bound syndrome in Cambodia involving wind-like pressure and anxiety symptoms.

Kimmelstiel-Wilson syndrome

Kidney damage due to diabetes, also known as diabetic nephropathy.

Kindler syndrome

A skin disorder with blistering, photosensitivity, and atrophy.

King–Kopetzky syndrome

Also called auditory disability with normal hearing; a form of hidden hearing loss.

Kleine–Levin syndrome

A sleep disorder with recurrent episodes of hypersomnia and behavioral changes.

Klinefelter syndrome

A chromosomal disorder in males with an extra X chromosome (47,XXY).

Klippel–Feil syndrome

A congenital condition with fused cervical vertebrae and short neck.

Klippel–Trénaunay syndrome

A vascular disorder with port-wine stains, varicose veins, and limb overgrowth.

Klüver–Bucy syndrome

A neurological disorder with hyperorality, hypersexuality, and docility.

Knobloch syndrome

A disorder with severe eye abnormalities and brain malformations.

Kocher–Debre–Semelaigne syndrome

Hypothyroidism with muscular pseudohypertrophy in children.

Kohlschütter-Tönz syndrome

A rare disorder with epilepsy, intellectual disability, and dental defects.

König's syndrome

A rare intestinal disorder with intermittent bowel obstruction.

Korsakoff's syndrome

A memory disorder due to thiamine deficiency, often linked to alcoholism.

Kostmann syndrome

A severe congenital neutropenia leading to recurrent infections.

Kounis syndrome

Allergic reaction leading to acute coronary syndrome.

Kowarski syndrome

A form of isolated growth hormone deficiency.

Kufor–Rakeb syndrome

A juvenile-onset parkinsonism with pyramidal signs and cognitive decline.

L

Lachiewicz–Sibley syndrome

A rare genetic disorder with short stature, brachydactyly, and facial anomalies.

Lacunar Stroke Syndrome

A type of stroke caused by small vessel disease affecting deep brain structures.

Lambert–Eaton myasthenic syndrome

An autoimmune disorder causing muscle weakness due to impaired neurotransmission.

Landau–Kleffner syndrome

A childhood neurological disorder with language regression and seizures.

Langer–Giedion syndrome

A genetic condition with sparse hair, bone abnormalities, and developmental delay.

Laron syndrome

A disorder caused by growth hormone receptor mutation resulting in short stature.

Larsen syndrome

A connective tissue disorder with joint dislocations and distinctive facial features.

Laryngoonychocutaneous syndrome

A rare disorder with laryngeal, skin, and nail abnormalities.

Lateral medullary syndrome

Also called Wallenberg syndrome; a brainstem stroke with dizziness, dysphagia, and sensory loss.

Lateral meningocele syndrome

A condition with protrusion of meninges through spinal defects, scoliosis, and joint laxity.

Lateral pontine syndrome

A brainstem stroke causing ipsilateral facial paralysis and contralateral body weakness.

Laugier–Hunziker syndrome

A benign condition with dark pigmentation on lips, mouth, and nails.

Laurence–Moon syndrome

A rare syndrome with retinal degeneration, obesity, hypogonadism, and intellectual disability.

Lavender foal syndrome

A genetic disorder in Arabian horses causing neurological deficits and lavender coat color.

Lawrence–Seip syndrome

A congenital generalized lipodystrophy with insulin resistance and muscular appearance.

Lazarus syndrome

Spontaneous return of circulation after failed resuscitation.

Leaky gut syndrome

A hypothetical condition where intestinal permeability leads to systemic illness; controversial.

Legg–Calvé–Perthes disease

A childhood hip disorder due to avascular necrosis of the femoral head.

Legius syndrome

A mild condition similar to neurofibromatosis type 1 but without neurofibromas.

Leiner's disease

A severe seborrheic dermatitis of infancy with diarrhea and failure to thrive.

Lelis syndrome

A rare ectodermal dysplasia with skin, hair, and sweat gland abnormalities.

Lemierre's syndrome

A bacterial infection starting in the throat that spreads to the jugular vein.

Lennox–Gastaut syndrome

A severe childhood epilepsy with multiple seizure types and intellectual disability.

Lenz–Majewski syndrome

A rare condition with hyperostosis, growth delays, and intellectual disability.

Lenz microphthalmia syndrome

A genetic disorder with small eyes, ear anomalies, and developmental delay.

Leriche's syndrome

Aortic occlusion syndrome causing claudication, impotence, and diminished femoral pulses.

Leschke syndrome

A rare disorder with adrenal insufficiency, short stature, and intellectual disability.

Lesch–Nyhan syndrome

An X-linked disorder with uric acid overproduction, self-injury, and neurological symptoms.

Lethal congenital contracture syndrome

A fatal condition with multiple joint contractures present at birth.

Lethal white syndrome

A genetic condition in horses causing gut malformation and early death.

Leukotriene receptor antagonist-associated Churg–Strauss syndrome

An eosinophilic vasculitis triggered in some asthmatic patients.

Levator ani syndrome

A cause of chronic pelvic pain due to spasm of the levator ani muscle.

Leydig cell hypoplasia

A disorder of sexual development with underdeveloped male genitalia.

Liddle's syndrome

A genetic form of hypertension due to increased sodium reabsorption.

Liebenberg syndrome

A rare condition where arms develop features of legs due to gene rearrangements.

Li–Fraumeni syndrome

A hereditary cancer predisposition syndrome due to TP53 mutations.

LIG4 syndrome

A DNA repair disorder with immunodeficiency, microcephaly, and growth retardation.

Lima syndrome

A psychological phenomenon where abductors develop sympathy for their captives.

Limber tail syndrome

A temporary tail flaccidity in dogs often after swimming or cold exposure.

Limb girdle syndrome

Muscle weakness affecting the shoulders and hips; commonly seen in muscular dystrophies.

Limb–mammary syndrome

A disorder with limb malformations and underdeveloped breasts or nipples.

Linburg–Comstock syndrome

A hand anomaly where flexion of the thumb also flexes the index finger.

Locked-in syndrome

A condition where a person is conscious but unable to move or communicate except via eye movements.

Locomotive syndrome

Reduced mobility due to aging or musculoskeletal problems.

Loeys–Dietz syndrome

A connective tissue disorder with arterial aneurysms and craniofacial abnormalities.

Löffler's syndrome

A transient lung condition caused by eosinophils during parasitic infections.

Löfgren syndrome

An acute form of sarcoidosis with fever, arthritis, and erythema nodosum.

Loin pain hematuria syndrome

A rare condition with severe flank pain and blood in the urine.

Long COVID

Persistent symptoms following COVID-19 infection.

Long face syndrome

A facial growth pattern with increased vertical height of the face.

Long QT syndrome

A heart rhythm disorder that can cause sudden arrhythmic death.

Loose anagen syndrome

A hair disorder where hair is easily pulled out due to poor anchoring.

Lown–Ganong–Levine syndrome

A pre-excitation syndrome causing episodes of rapid heartbeat.

Lowry–MacLean syndrome

A rare intellectual disability syndrome with speech delay and facial dysmorphism.

Lucey–Driscoll syndrome

A neonatal jaundice caused by maternal hormones inhibiting bilirubin metabolism.

Lujan–Fryns syndrome

An X-linked condition with intellectual disability, marfanoid habitus, and behavioral issues.

Lutembacher's syndrome

The coexistence of atrial septal defect and mitral stenosis.

Lymphangitis carcinomatosa

Cancer-related inflammation of lymphatic vessels in the lungs.

Lymphedema–distichiasis syndrome

A condition with lower limb lymphedema and extra eyelashes.

Lynch syndrome

A hereditary cancer syndrome predisposing to colorectal and other cancers.

Lyngstadaas syndrome

A rare condition with cleft palate and skeletal abnormalities.

M

M74 syndrome

A rare disorder characterized by muscle weakness and developmental delay.

Macrocephaly-capillary malformation

A genetic disorder with enlarged head size and abnormal skin capillaries.

Macrophage activation syndrome

A severe inflammatory condition often seen in autoimmune diseases.

Maffucci syndrome

A rare disease with bone and skin lesions and risk of malignancy.

Majeed syndrome

A genetic disorder with bone inflammation, anemia, and skin rash.

Majewski's polydactyly syndrome

A lethal condition with polydactyly, dwarfism, and organ defects.

Mal de debarquement

A balance disorder causing a sensation of movement after travel.

Malformative syndrome

A general term for syndromes involving multiple congenital anomalies.

Mallory–Weiss syndrome

Tears in the esophageal lining due to severe vomiting or retching.

Malnutrition–inflammation complex

A condition of chronic disease with malnutrition and systemic inflammation.

Malouf syndrome

A rare disorder with dilated cardiomyopathy and hypogonadism.

Malpuech facial clefting syndrome

A condition with facial clefts, genital anomalies, and developmental delay.

Manning criteria

Diagnostic criteria for irritable bowel syndrome, not a syndrome itself.

Marchiafava–Bignami disease

A rare disorder of the corpus callosum usually due to chronic alcohol use.

Marden–Walker syndrome

A condition with joint contractures, facial abnormalities, and developmental delay.

Mare reproductive loss syndrome

A veterinary syndrome affecting pregnant mares due to caterpillar exposure.

Marfanoid–progeroid–lipodystrophy syndrome

A rare disorder combining features of Marfan, premature aging, and fat loss.

Marfan syndrome

A connective tissue disorder with tall stature, aortic aneurysm, and lens dislocation.

Marie Antoinette syndrome

Sudden whitening of hair due to stress, anecdotal and not clinically proven.

Marinesco–Sjögren syndrome

A congenital disorder with ataxia, cataracts, and intellectual disability.

Maroteaux–Lamy syndrome

A mucopolysaccharidosis type VI with skeletal abnormalities and short stature.

Marshall–Smith syndrome

A rare disorder with accelerated bone maturation and developmental delay.

Marshall syndrome

A genetic disorder with eye, joint, and facial abnormalities.

Marshall–White syndrome

A condition with features of ectodermal dysplasia and facial anomalies.

MASA syndrome

A condition with intellectual disability, spasticity, and hydrocephalus.

Mast cell activation syndrome

A condition with episodes of allergy-like symptoms due to mast cell dysregulation.

Mauriac syndrome

A complication of poorly controlled diabetes with growth failure and liver enlargement.

Mayer–Rokitansky–Küster–Hauser syndrome

A congenital absence of uterus and upper vagina in females.

May–Thurner syndrome

Compression of the left iliac vein by the right iliac artery leading to DVT.

May–White syndrome

A little-known disorder involving neurological symptoms.

McArdle syndrome

A genetic disorder of muscle metabolism causing exercise intolerance.

McCune–Albright syndrome

A disorder with bone lesions, skin pigmentation, and endocrine problems.

McCusick syndrome

A form of chondrodysplasia punctata with eye and skeletal anomalies.

McGillivray syndrome

A rare disorder with facial anomalies and developmental delay.

McKittrick–Wheelock syndrome

A condition with large villous adenomas causing fluid and electrolyte imbalance.

McKusick–Kaufman syndrome

A genetic disorder with heart defects, genital malformations, and polydactyly.

McLeod syndrome

A rare X-linked disorder with neuromuscular and hematologic symptoms.

MDP syndrome

A rare disorder with muscle loss, fat loss, deafness, and progeroid features.

Mean world syndrome

A media theory where heavy TV viewers perceive the world as more dangerous.

Meckel syndrome

A lethal disorder with kidney cysts, brain malformations, and polydactyly.

Meconium aspiration syndrome

A respiratory condition in newborns who inhale meconium-stained fluid.

Medial medullary syndrome

A stroke syndrome affecting the anterior spinal artery territory in the medulla.

Medial pontine syndrome

A brainstem stroke causing facial paralysis and contralateral weakness.

Median arcuate ligament syndrome

Compression of the celiac artery causing abdominal pain.

Medical students' disease

Hypochondriacal belief of having diseases studied in medical school.

MEDNIK syndrome

A genetic disorder with mental retardation, enteropathy, deafness, and neuropathy.

Megavitamin-B6 syndrome

A neuropathy caused by excessive intake of vitamin B6.

Meige's syndrome

A neurological disorder with involuntary facial and jaw muscle contractions.

Meigs' syndrome

A condition with ovarian fibroma, ascites, and pleural effusion that resolves after tumor removal.

MELAS syndrome

A mitochondrial disorder with stroke-like episodes, lactic acidosis, and encephalopathy.

Melkersson–Rosenthal syndrome

A rare neurological disorder with facial swelling, palsy, and a fissured tongue.

Melnick–Needles syndrome

A skeletal dysplasia causing bone malformations, facial anomalies, and scoliosis.

Memory distrust syndrome

A psychiatric condition involving persistent doubt in one's own memory accuracy.

Mendelson's syndrome

A chemical pneumonitis due to aspiration of gastric acid during anesthesia.

Ménière's disease

An inner ear disorder with vertigo, tinnitus, and hearing loss.

Menkes disease

A genetic disorder affecting copper metabolism leading to neurodegeneration.

MERRF syndrome

Myoclonic epilepsy with ragged red fibers; a mitochondrial disorder.

Metabolic syndrome

A cluster of conditions including hypertension, high blood sugar, and obesity.

Michelin tire baby syndrome

A condition with ring-like skin folds and developmental delay.

Michels Caskey syndrome

A disorder involving renal and reproductive tract malformations.

Michels syndrome

A syndrome with cleft lip, blepharophimosis, and genital anomalies.

Mickleson syndrome

A very rare disorder with unknown cause and poorly characterized symptoms.

Microdeletion syndrome

A group of genetic disorders caused by small chromosomal deletions.

Microphthalmia–dermal aplasia–sclerocornea syndrome

A rare disorder with eye malformations and skin defects.

Micro syndrome

A condition with microcephaly, ocular and brain anomalies, and developmental delay.

Middle cerebral artery syndrome

A stroke syndrome causing contralateral hemiplegia and sensory loss.

Middle child syndrome

A non-clinical term describing perceived neglect or lack of attention in middle children.

Middle East respiratory syndrome

A viral respiratory illness caused by MERS coronavirus.

Mikulicz syndrome

Chronic, bilateral swelling of lacrimal and salivary glands, often autoimmune.

Mild androgen insensitivity syndrome

A condition where males have partial resistance to androgens, leading to underdeveloped genitalia.

Milk-alkali syndrome

Hypercalcemia caused by excessive intake of calcium and absorbable alkali.

Millard–Gubler syndrome

A brainstem syndrome with facial paralysis and contralateral hemiplegia.

Miller–Dieker syndrome

A condition with lissencephaly and severe intellectual disability.

Miller Fisher syndrome

A variant of Guillain-Barré with ophthalmoplegia, ataxia, and areflexia.

Miller syndrome

A rare genetic disorder with limb malformations and facial anomalies.

Milroy's disease

A congenital lymphedema primarily affecting the lower limbs.

Milwaukee shoulder syndrome

A destructive shoulder arthropathy caused by hydroxyapatite crystals.

Mirhosseini–Holmes–Walton syndrome

A syndrome with deafness, intellectual disability, and eye defects.

Mirizzi's syndrome

Compression of the common hepatic duct by a gallstone in the cystic duct.

Mirror syndrome

A condition where maternal edema mirrors fetal hydrops.

Mismatch repair cancer syndrome

A hereditary cancer syndrome due to biallelic mismatch repair gene mutations.

Mitochondrial DNA depletion syndrome

A group of disorders with reduced mitochondrial DNA and organ failure.

Mitochondrial neurogastrointestinal encephalopathy syndrome

A mitochondrial disorder affecting GI tract and nervous system.

Mitral valve prolapse

A heart valve disorder where the mitral valve bulges into the left atrium.

Mittelschmerz

Ovulation-related pelvic pain experienced by some women.

Möbius syndrome

A neurological disorder causing facial paralysis and impaired eye movement.

Mohr–Tranebjærg syndrome

A progressive hearing loss syndrome with neurologic decline.

MOMO syndrome

A rare overgrowth syndrome with macrocephaly, obesity, and mental retardation.

Monofixation syndrome

A type of strabismus with small angle deviation and poor binocular vision.

MonoMAC

An immunodeficiency with monocytopenia and mycobacterial infections.

Morgagni Stewart Morel syndrome

A condition with obesity, hirsutism, and bony thickening of the skull.

MORM syndrome

A rare syndrome with mental retardation, obesity, retinal dystrophy, and micropenis.

Morquio syndrome

A mucopolysaccharidosis causing skeletal abnormalities and short stature.

Morvan's syndrome

A rare autoimmune disorder with neuromyotonia, insomnia, and autonomic dysfunction.

Mouth and genital ulcers with inflamed cartilage syndrome

Also known as MAGIC syndrome; features of Behçet and relapsing polychondritis.

Mowat–Wilson syndrome

A syndrome with intellectual disability, distinctive facial features, and Hirschsprung disease.

Moyamoya disease

A cerebrovascular disorder with progressive narrowing of brain arteries.

Moynahan syndrome

A very rare disorder combining multiple anomalies; poorly defined.

Muckle–Wells syndrome

An autoinflammatory disorder with fever, rash, and hearing loss.

Muenke syndrome

A genetic condition causing craniosynostosis, hearing loss, and limb abnormalities.

Muir–Torre syndrome

A variant of Lynch syndrome with skin tumors and internal malignancies.

Mukamel syndrome

A very rare disorder involving deafness, mental retardation, and short stature.

Müllerian agenesis

A congenital absence of the uterus and upper vaginal tract in females.

Multiple endocrine neoplasia type 1

A hereditary condition causing tumors in parathyroid, pancreas, and pituitary glands.

Multiple endocrine neoplasia type 2

A genetic syndrome with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.

Multiple evanescent white dot syndrome

An eye condition with multiple white dots in the retina causing blurred vision.

Multiple hamartoma syndrome

Also known as Cowden syndrome; characterized by benign tumors and cancer risk.

Multiple organ dysfunction syndrome

Progressive organ failure due to severe illness or injury.

Multiple pterygium syndrome

A rare condition with webbing of joints and spinal abnormalities.

Munchausen syndrome

A psychiatric disorder where individuals feign illness for attention or sympathy.

Mungan syndrome

A hereditary condition with achalasia, alacrima, and adrenal insufficiency.

Musical ear syndrome

A type of auditory hallucination involving perceived music in the absence of sound.

Mycosis fungoides

A form of cutaneous T-cell lymphoma presenting with skin lesions.

Myelodysplastic syndrome

A group of bone marrow disorders with ineffective blood cell production.

Myoclonic astatic epilepsy

A childhood epilepsy syndrome with myoclonic and atonic seizures.

Myofascial pain syndrome

A chronic pain disorder with trigger points in muscles.

Myomatous erythrocytosis syndrome

A rare condition where uterine fibroids cause secondary erythrocytosis.

N

Nablus mask-like facial syndrome

A rare genetic condition causing distinctive facial features, hearing loss, and developmental delay.

Naegeli–Franceschetti–Jadassohn syndrome

A form of ectodermal dysplasia affecting skin, teeth, and nails.

Nager acrofacial dysostosis

A condition with craniofacial anomalies and limb defects, especially affecting the forearms and hands.

Nail–patella syndrome

A genetic disorder causing nail dysplasia, absent or small patellae, and kidney disease.

Nakajo syndrome

A rare autoinflammatory disorder with skin rash, muscle wasting, and partial lipodystrophy.

Nance–Horan syndrome

An X-linked disorder with cataracts, dental anomalies, and intellectual disability.

Napoleonist Syndrome

A non-medical term describing short-man syndrome or compensatory behavior due to perceived short stature.

Nasodigitoacoustic syndrome

A rare disorder with nose, finger, toe, and hearing abnormalities.

Naxos syndrome

A condition with woolly hair, palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy.

Nelson's syndrome

A complication of adrenalectomy for Cushing's disease, leading to pituitary tumor enlargement.

NEMO deficiency syndrome

An immunodeficiency caused by mutations in the IKBKG gene, leading to ectodermal dysplasia and infections.

Neonatal ichthyosis–sclerosing cholangitis syndrome

A condition with skin scaling and bile duct inflammation from infancy.

Nephritic syndrome

A kidney disorder with hematuria, hypertension, and reduced kidney function.

Nephrotic syndrome

A kidney condition causing heavy proteinuria, hypoalbuminemia, and edema.

Nerve compression syndrome

Any condition involving pressure on a nerve causing pain, numbness, or weakness.

Netherton syndrome

A genetic disorder with skin inflammation, hair shaft defects, and immune abnormalities.

Neu–Laxova syndrome

A lethal genetic disorder with severe growth restriction, limb deformities, and brain anomalies.

Neuro-cardio-facial-cutaneous syndromes

A group of related conditions (e.g., Noonan, Costello) affecting the nervous system, heart, face, and skin.

Neurofibromatosis type I

A genetic disorder with café-au-lait spots, neurofibromas, and risk of tumors.

Neuroleptic-Induced Deficit Syndrome

A condition marked by apathy and cognitive dulling due to long-term antipsychotic use.

Neuroleptic malignant syndrome

A life-threatening reaction to antipsychotic drugs with fever, rigidity, and autonomic dysfunction.

Neutrophil immunodeficiency syndrome

A disorder where neutrophil dysfunction leads to recurrent infections.

Nevoid basal-cell carcinoma syndrome

Also known as Gorlin syndrome; causes multiple basal cell carcinomas and jaw cysts.

Nevo syndrome

A rare overgrowth syndrome with tall stature, joint hyperlaxity, and hypotonia.

Nezelof syndrome

A thymic deficiency syndrome causing severe immunodeficiency in infancy.

Nicolaides–Baraitser syndrome

A rare condition with seizures, coarse facial features, and intellectual disability.

Nicolau–Balus syndrome

A pigmentary skin disorder characterized by blue-black macules.

Night eating syndrome

An eating disorder with late-night eating and sleep disturbances.

Nijmegen breakage syndrome

A chromosomal instability disorder with microcephaly, immunodeficiency, and cancer risk.

Njølstad syndrome

A neonatal diabetes and neurological disorder caused by KCNJ11 or ABCC8 mutations.

Nodding disease

A neurological disorder in children causing repetitive head nodding and seizures.

Non-24-hour sleep–wake disorder

A circadian rhythm disorder with a daily delay in sleep and wake times.

Noonan syndrome

A genetic disorder with short stature, heart defects, and distinctive facial features.

Noonan syndrome with multiple lentigines

A variant of Noonan syndrome with numerous lentigines and cardiac anomalies.

Norman–Roberts syndrome

A lissencephaly syndrome with facial dysmorphism and severe developmental delay.

Northern epilepsy syndrome

A form of progressive epilepsy seen in Finnish populations.

Nutcracker syndrome

Compression of the left renal vein between the aorta and SMA, causing hematuria and flank pain.

O

Occipital horn syndrome

A mild form of Menkes disease with connective tissue abnormalities and occipital bone deformities.

Ocular ischemic syndrome

A vision-threatening condition caused by reduced blood flow to the eye, usually from carotid artery disease.

Oculoauricular syndrome

A rare disorder with anomalies of the eyes and ears.

Oculocerebrocutaneous syndrome

A rare congenital disorder with skin, eye, and brain malformations.

Oculocerebrorenal syndrome

Also known as Lowe syndrome; causes eye cataracts, brain abnormalities, and kidney issues.

Oculofaciocardiodental syndrome

A rare X-linked disorder in females with eye, facial, cardiac, and dental anomalies.

Oculomucocutaneous syndrome

A reaction to medications (e.g. Stevens–Johnson syndrome) involving eyes, skin, and mucosa.

Oculo-respiratory syndrome

A mild allergic reaction following influenza vaccination involving eye redness and respiratory symptoms.

Odontoma dysphagia syndrome

A rare disorder where dental tumors cause difficulty in swallowing.

Odonto–tricho–ungual–digital–palmar syndrome

A genetic condition with abnormalities in teeth, hair, nails, and palms.

Ogden Syndrome

A lethal X-linked disorder causing developmental delay, facial anomalies, and progeroid features.

Ogilvie syndrome

Acute colonic pseudo-obstruction without mechanical blockage.

Ohtahara syndrome

An early infantile epileptic encephalopathy with intractable seizures and poor prognosis.

Olfactory reference syndrome

A psychiatric condition where a person believes they emit a foul odor.

Oliver–McFarlane syndrome

A condition with hair abnormalities, visual impairment, and pituitary dysfunction.

Omenn syndrome

A severe combined immunodeficiency with rash, diarrhea, and failure to thrive.

One and a half syndrome

A neurological disorder affecting horizontal eye movement due to brainstem lesions.

Oneiroid syndrome

A dream-like state with confusion, hallucinations, and fantasy-like experiences.

Opitz G/BBB Syndrome

A genetic condition with cleft lip/palate, hypospadias, and developmental delay.

Opsoclonus myoclonus syndrome

A rare neurological condition with rapid eye movements, myoclonus, and ataxia.

Oral allergy syndrome

An allergic reaction in the mouth caused by cross-reactive proteins in pollen and food.

Oral-facial-digital syndrome

A group of disorders affecting the development of the face, oral cavity, and digits.

Oral mite anaphylaxis

An allergic reaction to mite-contaminated flour, often after eating pancakes.

Orbital apex syndrome

A condition affecting structures in the orbital apex, leading to vision loss and ophthalmoplegia.

Organic brain syndrome

An outdated term for cognitive dysfunction due to a known physical brain cause.

Organic dust toxic syndrome

A flu-like illness from inhaling organic dust, without infection.

Orofaciodigital syndrome 1

A form of oral-facial-digital syndrome with polycystic kidneys and X-linked inheritance.

Ortner's syndrome

Hoarseness due to left recurrent laryngeal nerve compression by enlarged cardiovascular structures.

OSLAM syndrome

A genetic disorder with osteosarcoma, limb anomalies, and skin issues.

Osler–Weber–Rendu disease

Also called hereditary hemorrhagic telangiectasia; causes abnormal blood vessels and bleeding.

Otodental syndrome

A rare condition with globodontia (large molars) and hearing loss.

Otofacial syndrome

A syndrome with ear and facial anomalies, sometimes with hearing impairment.

Ovarian hyperstimulation syndrome

A complication of fertility treatment with enlarged ovaries and fluid accumulation.

Ovarian vein syndrome

Ureteral obstruction caused by a dilated ovarian vein.

Overgrowth syndrome

A general term for conditions with excessive physical growth and developmental anomalies.

Overlap syndrome

A condition featuring features of multiple autoimmune rheumatic diseases.

P

Pacak–Zhuang syndrome

A rare paraganglioma syndrome characterized by norepinephrine-secreting tumors and somatic mutations.

Pacemaker syndrome

Symptoms caused by suboptimal timing of atrial and ventricular contractions in patients with pacemakers.

Painful bruising syndrome

Also known as autoerythrocyte sensitization; spontaneous bruising often linked to emotional stress.

Pallister–Hall syndrome

A genetic disorder with polydactyly, hypothalamic hamartoma, and other malformations.

Pallister–Killian syndrome

A rare chromosomal disorder causing severe developmental delay, hypotonia, and distinctive facial features.

Panayiotopoulos syndrome

A benign childhood epilepsy with autonomic seizures often involving vomiting and eye deviation.

Pancoast tumor

A tumor at the lung apex causing shoulder pain and Horner syndrome due to local invasion.

Pantothenate kinase-associated neurodegeneration

A genetic disorder involving iron accumulation in the brain and progressive movement issues.

PAPA syndrome

Pyogenic Arthritis, Pyoderma gangrenosum, and Acne; an autoinflammatory disorder.

Papillon–Lefèvre syndrome

A rare autosomal recessive disorder with palmoplantar keratoderma and severe periodontitis.

Papillorenal syndrome

A genetic disorder with optic nerve abnormalities and kidney malformations.

Papular purpuric gloves and socks syndrome

A rash with red or purple papules on hands and feet, often associated with viral infections.

Paraneoplastic acrokeratosis

A skin condition associated with internal malignancies, often squamous cell carcinoma.

Paraneoplastic cerebellar degeneration

An autoimmune neurological disorder causing cerebellar dysfunction linked to cancer.

Paraneoplastic syndrome

A group of symptoms caused by immune responses to cancer, affecting systems distant from the tumor.

Parental alienation syndrome

A controversial theory where a child unjustly rejects one parent due to manipulation by the other.

Parinaud's oculoglandular syndrome

A unilateral eye inflammation with lymphadenopathy, typically from cat-scratch disease.

Parinaud's syndrome

A dorsal midbrain syndrome with vertical gaze palsy and pupil abnormalities.

Paris-Trousseau syndrome

A platelet disorder associated with Jacobsen syndrome, causing bleeding tendency.

Parkes Weber syndrome

A congenital condition with limb overgrowth and arteriovenous malformations.

Persistent Müllerian duct syndrome

A disorder where male individuals retain female reproductive structures due to AMH deficiency.

Pervasive refusal syndrome

A rare psychiatric disorder in children involving refusal to eat, walk, talk, or care for themselves.

Peters-plus syndrome

A genetic condition with eye defects, short stature, and developmental delay.

Peutz–Jeghers syndrome

A hereditary condition with intestinal polyps and mucocutaneous pigmentation.

Pfeiffer syndrome

A craniosynostosis syndrome with broad thumbs and toes and variable skull malformations.

Phantom eye syndrome

Phantom sensations or pain experienced in an eye that has been surgically removed.

Phantom limb

Perception that an amputated or missing limb is still present.

Phantom vibration syndrome

A sensation that one's mobile phone is vibrating when it is not.

Phelan-McDermid Syndrome

A genetic disorder with developmental delay, intellectual disability, and autism-like behavior.

Pickwickian syndrome

Obesity hypoventilation syndrome leading to excessive daytime sleepiness and low oxygen levels.

Pigment dispersion syndrome

An eye disorder where pigment granules shed from the iris and can clog drainage structures.

Pigmented hairy epidermal nevus syndrome

A condition with skin lesions and neurologic or skeletal abnormalities.

Pilotto syndrome

A rare disorder involving mental retardation, epilepsy, and abnormal EEG patterns.

Piriformis syndrome

Compression of the sciatic nerve by the piriformis muscle causing buttock and leg pain.

Pitt–Hopkins syndrome

A neurological disorder with severe developmental delay, breathing abnormalities, and distinctive facial features.

Plica syndrome

A knee condition caused by irritation of a fold in the synovial membrane.

Plummer–Vinson syndrome

A condition with iron deficiency anemia, dysphagia, and esophageal webs.

POEMS syndrome

A rare blood disorder with Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, and Skin changes.

Poland syndrome

A congenital condition with missing chest muscles and webbed fingers on one side of the body.

Polar T3 syndrome

A thyroid condition found in people exposed to extreme cold, involving altered T3 hormone metabolism.

Polio-like syndrome

A condition with paralysis resembling poliomyelitis but caused by different viruses.

Polycystic ovary syndrome

A hormonal disorder with irregular periods, ovarian cysts, and elevated androgens.

Popliteal artery entrapment syndrome

Compression of the popliteal artery by surrounding muscles or tendons.

Popliteal pterygium syndrome

A genetic condition with cleft lip/palate, popliteal webbing, and genital anomalies.

Porcine stress syndrome

A metabolic condition in pigs triggered by stress, leading to sudden death.

Pork–cat syndrome

An allergic reaction to pork in individuals sensitized to cat serum albumin.

Post-acute-withdrawal syndrome

A set of persistent withdrawal symptoms after stopping addictive substances.

Postcardiotomy syndrome

A condition after open-heart surgery with fever, chest pain, and inflammation.

Postcholecystectomy syndrome

Persistent abdominal symptoms following gallbladder removal.

Post-concussion syndrome

Persistent symptoms like headache and dizziness after a concussion.

Post-Ebola virus syndrome

Long-term health issues in survivors of Ebola infection, such as joint pain and fatigue.

Posterior cerebral artery syndrome

A stroke syndrome affecting the visual cortex and sometimes memory.

Posterior cord syndrome

Spinal cord injury affecting proprioception and fine touch while sparing motor function.

Posterior rami syndrome

A back pain syndrome due to involvement of the posterior spinal nerve branches.

Posterior reversible encephalopathy syndrome

A neurological disorder with headache, seizures, and visual loss, often reversible.

Postgastrectomy syndromes

Various symptoms following surgical removal of the stomach.

Post-intensive care syndrome

Physical, cognitive, and emotional problems persisting after ICU discharge.

Post-maturity syndrome

A condition in post-term infants with dry, peeling skin and risk of complications.

Post-micturition convulsion syndrome

A benign shudder or convulsion-like response after urination, mostly in men.

Post-nasal drip syndrome

Excess mucus dripping down the throat causing cough or throat clearing.

Postorgasmic illness syndrome

Flulike symptoms following ejaculation, seen in men.

Postperfusion syndrome

Cognitive and behavioral changes after cardiopulmonary bypass surgery.

Postpericardiotomy syndrome

Pericardial inflammation after cardiac surgery or trauma.

Post-polio syndrome

Late effects of polio causing muscle weakness, fatigue, and pain decades after recovery.

Post-thrombotic syndrome

Chronic leg pain and swelling after a deep vein thrombosis.

Post-traumatic stress syndrome

A mental health condition triggered by experiencing or witnessing a traumatic event.

Postural orthostatic tachycardia syndrome

An autonomic disorder causing rapid heartbeat on standing.

Post-vasectomy pain syndrome

Chronic pain following vasectomy, often without clear cause.

Potocki–Lupski syndrome

A duplication syndrome with developmental delay and behavioral issues.

Potocki–Shaffer syndrome

A deletion syndrome causing skeletal anomalies and intellectual disability.

Potter sequence

A condition caused by decreased amniotic fluid leading to lung and limb abnormalities.

Prader–Willi syndrome

A genetic disorder causing hypotonia, obesity, short stature, and intellectual disability.

Precordial catch syndrome

A benign condition causing brief chest pain, often in adolescents, unrelated to heart disease.

Pre-excitation syndrome

A cardiac condition where electrical impulses bypass normal pathways, e.g., Wolff–Parkinson–White syndrome.

Premenstrual syndrome

A set of physical and emotional symptoms occurring before menstruation.

Presumed ocular histoplasmosis syndrome

An eye condition linked to fungal exposure causing chorioretinal scars and vision loss.

Pretzel syndrome

A term for multiple pterygium syndrome, causing joint contractures and webbing.

Primary pigmented nodular adrenocortical disease

A rare adrenal disorder causing Cushing's syndrome without tumors.

Primrose syndrome

A rare disorder with macrocephaly, developmental delay, and calcified external ears.

Progeroid syndromes

A group of disorders causing features of premature aging.

Progressive supranuclear palsy

A brain disorder with balance problems, stiffness, and eye movement difficulty.

Prolonged grief disorder

A psychiatric condition involving intense, persistent mourning impairing function.

Pronator teres syndrome

Median nerve entrapment near the elbow causing forearm pain and numbness.

Propofol infusion syndrome

A rare but serious reaction to prolonged propofol use, with metabolic acidosis and cardiac failure.

Proteus-like syndrome

A condition resembling Proteus syndrome but lacking full diagnostic criteria.

Proteus syndrome

A complex disorder with asymmetric overgrowth of bones, skin, and other tissues.

Prune belly syndrome

A congenital disorder with weak abdominal muscles, urinary tract abnormalities, and cryptorchidism.

Pseudo-Cushing's syndrome

Cushing-like symptoms due to conditions like alcoholism, depression, or obesity.

Pseudodementia

Cognitive impairment mimicking dementia, often due to depression.

Pseudoexfoliation syndrome

An eye condition where fibrillar material accumulates, increasing glaucoma risk.

Psychoorganic syndrome

A historical term for cognitive and emotional symptoms due to organic brain disease.

Puer aeternus

A Jungian archetype referring to an adult who remains emotionally immature; not a clinical diagnosis.

Pulmonary-renal syndrome

A condition with lung hemorrhage and kidney inflammation, often autoimmune.

Purple glove syndrome

A complication of IV phenytoin use causing discoloration and swelling of the limb.

Purple urine bag syndrome

Discoloration of urinary catheter bags due to bacterial metabolism of tryptophan.

Q

Qazi–Markouizos syndrome

A rare genetic disorder with intellectual disability, facial dysmorphism, and skeletal abnormalities.

Quadrilateral space syndrome

A neurovascular entrapment syndrome involving the axillary nerve and posterior circumflex humeral artery.

Queen bee syndrome

A social phenomenon where women in power distance themselves from other women; not a medical condition.

R

Rabbit syndrome

A movement disorder characterized by perioral tremors, often due to long-term antipsychotic use.

Rabson–Mendenhall syndrome

A rare genetic disorder with severe insulin resistance, acanthosis nigricans, and abnormal growth.

Radial tunnel syndrome

A nerve compression syndrome causing pain in the forearm due to pressure on the radial nerve.

Rage syndrome

An episodic aggression disorder seen in dogs, rarely described in humans and not a recognized diagnosis.

Raghib syndrome

A congenital heart defect involving persistent left superior vena cava draining into the left atrium.

Raine syndrome

A lethal osteosclerotic bone dysplasia often causing early neonatal death.

Ramos-Arroyo syndrome

A rare condition with corneal anesthesia, deafness, and developmental delays.

Ramsay Hunt syndrome

General term often referring to type 2; affects facial nerve due to varicella-zoster virus.

Ramsay Hunt syndrome type 1

A rare neurodegenerative disorder involving tremors, seizures, and ataxia.

Ramsay Hunt syndrome type 2

A complication of shingles involving facial paralysis and ear rash.

RAPADILINO syndrome

A rare genetic disorder with skeletal malformations, growth retardation, and radial ray defects.

Rape trauma syndrome

A form of PTSD that occurs after sexual assault, involving acute and long-term phases.

Rapp–Hodgkin syndrome

An ectodermal dysplasia with cleft lip/palate, sparse hair, and abnormal teeth.

Rapunzel syndrome

A condition where swallowed hair forms a trichobezoar extending into the small intestine.

Rasmussen syndrome

A chronic inflammatory neurological disease causing intractable seizures in one brain hemisphere.

RASopathy

A group of disorders caused by mutations in the RAS-MAPK pathway, including Noonan and Costello syndromes.

Raymond Céstan syndrome

A brainstem stroke syndrome affecting the pons and causing motor and sensory deficits.

Raynaud syndrome

A condition where extremities turn white or blue in response to cold or stress.

Reactive arthritis

A form of inflammatory arthritis triggered by infection in another part of the body.

Red ear syndrome

A rare headache disorder characterized by redness and burning of one ear.

Red man syndrome (Drug eruption)

A reaction to vancomycin infusion causing flushing, rash, and hypotension.

Refeeding syndrome

A potentially fatal shift in fluids and electrolytes in malnourished patients receiving nutrition.

Renal dysplasia-limb defects syndrome

A lethal disorder with kidney malformations and limb anomalies.

Renfield syndrome

A fictional term describing an obsession with drinking blood, based on Dracula’s character.

Renpenning's syndrome

An X-linked intellectual disability syndrome with microcephaly and short stature.

Restless legs syndrome

A neurological disorder causing uncomfortable leg sensations and an urge to move, especially at rest.

Restrictive dermopathy

A lethal congenital skin disorder with tight, shiny skin and joint contractures.

Retinoic acid syndrome

A potentially fatal complication of ATRA treatment for leukemia, involving fever, edema, and respiratory distress.

Retirement syndrome

A psychological adjustment issue after retirement, sometimes involving loss of purpose or depression.

Rett syndrome

A rare neurodevelopmental disorder in girls causing loss of motor and speech skills after early normal development.

Reversible cerebral vasoconstriction syndrome

A condition marked by thunderclap headaches and reversible narrowing of cerebral arteries.

Revesz syndrome

A severe variant of dyskeratosis congenita with retinal vasculopathy and bone marrow failure.

Reye syndrome

A rare but serious condition causing brain and liver swelling, often after viral illness in children.

Reynolds' pentad

A set of five signs indicating suppurative cholangitis: fever, jaundice, pain, hypotension, and confusion.

Reynolds syndrome

An autoimmune overlap syndrome combining scleroderma and primary biliary cholangitis.

Rh deficiency syndrome

A rare disorder with hemolytic anemia due to absence of Rh antigens on red blood cells.

Riddoch syndrome

A visual phenomenon where motion is perceived in a blind visual field, seen in cortical blindness.

Right middle lobe syndrome

Recurrent or chronic collapse of the right middle lobe of the lung due to obstruction or inflammation.

Riley-Day Syndrome

Another name for familial dysautonomia, a genetic disorder affecting autonomic and sensory nerves.

Ring chromosome 14 syndrome

A chromosomal disorder causing epilepsy, intellectual disability, and vision problems.

Ring chromosome 20 syndrome

A rare epilepsy syndrome with normal development followed by drug-resistant seizures.

Roberts syndrome

A rare genetic disorder causing limb reduction, facial abnormalities, and growth retardation.

Robinow syndrome

A skeletal dysplasia with short stature, facial anomalies, and genital hypoplasia.

Rochon-Duvigneaud's syndrome

A rare condition with exophthalmos and visual impairment due to orbital venous congestion.

Roemheld syndrome

Also known as gastrocardiac syndrome; GI issues trigger cardiac symptoms like palpitations.

ROHHAD

A rare pediatric disorder with rapid-onset obesity, hypothalamic dysfunction, and breathing abnormalities.

Romano–Ward syndrome

An inherited form of long QT syndrome without deafness, leading to risk of sudden cardiac death.

Rombo syndrome

A rare genetic disorder with skin atrophy, basal cell carcinomas, and milia.

Rosenthal–Kloepfer syndrome

A rare form of hyperostosis affecting the skull and face, often with dental abnormalities.

Rosenthal syndrome

A bleeding disorder characterized by factor XI deficiency.

Rosselli–Gulienetti syndrome

A form of ectodermal dysplasia with cleft lip/palate and abnormal teeth.

Ross' syndrome

A rare neurological disorder with tonic pupil, hyporeflexia, and segmental anhidrosis.

Rothmund–Thomson syndrome

A genetic condition with poikiloderma, skeletal abnormalities, and increased cancer risk.

Rotor syndrome

A benign hereditary jaundice with conjugated hyperbilirubinemia and normal liver histology.

Roussy–Lévy syndrome

A hereditary neuropathy with tremors, areflexia, and gait abnormalities.

Rubinstein–Taybi syndrome

A condition with intellectual disability, broad thumbs, and facial abnormalities.

Rudiger syndrome

A congenital disorder with limb, genital, and urinary tract anomalies.

Rud syndrome

A rare condition involving ichthyosis, hypogonadism, and intellectual disability.

Rumination syndrome

A gastrointestinal disorder where undigested food is regurgitated and re-chewed.

Runting-stunting syndrome in broilers

A condition in poultry characterized by poor growth and feathering.

Ruzicka Goerz Anton syndrome

A rare dermatological condition associated with follicular hyperkeratosis and atrophy.

S

Saal Bulas syndrome

A rare genetic disorder characterized by skeletal anomalies and developmental delays.

Saal Greenstein syndrome

A condition with unknown genetic basis involving skeletal malformations and facial dysmorphism.

Sabinas brittle hair syndrome

A rare inherited disorder featuring brittle hair, growth retardation, and intellectual disability.

Sack–Barabas syndrome

An older term for vascular Ehlers–Danlos syndrome, known for fragile blood vessels and thin skin.

SACRAL syndrome

A congenital syndrome involving spinal anomalies, anal atresia, and renal defects.

Saethre–Chotzen syndrome

A craniosynostosis syndrome with facial asymmetry, low hairline, and limb abnormalities.

SAHA syndrome

A condition combining seborrhea, acne, hirsutism, and alopecia, often associated with androgen excess.

Sakati–Nyhan–Tisdale syndrome

A genetic disorder involving hypothyroidism, alopecia, intellectual disability, and deafness.

Salt water aspiration syndrome

A condition in divers or swimmers due to inhaling salt water, causing lung irritation.

Sandifer syndrome

A pediatric condition where gastroesophageal reflux causes abnormal posturing or spasms.

Sanfilippo syndrome

A type of mucopolysaccharidosis marked by severe neurodegeneration in childhood.

Sanjad-Sakati syndrome

A rare autosomal recessive disorder with growth failure, hypoparathyroidism, and facial anomalies.

SAPHO syndrome

A chronic condition involving Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis.

Satoyoshi syndrome

A rare autoimmune disease with painful muscle spasms, alopecia, and diarrhea.

Savant syndrome

A rare condition where individuals with developmental disorders exhibit extraordinary abilities.

Say–Meyer syndrome

A rare X-linked condition with developmental delay and abnormal skull shape.

Say syndrome

A condition characterized by cleft palate, short stature, and intellectual disability.

Scalp–ear–nipple syndrome

A genetic syndrome with underdeveloped nipples, scalp defects, and ear anomalies.

SCARF syndrome

A congenital disorder featuring Skeletal, Cutaneous, Anal, Renal, and Facial anomalies.

Scheie syndrome

A mild form of mucopolysaccharidosis type I with joint stiffness and eye problems.

Schimmelpenning syndrome

A skin disorder with nevus sebaceous and neurological or skeletal anomalies.

Schinzel–Giedion syndrome

A severe developmental disorder with midface retraction and multiple congenital anomalies.

Schmitt Gillenwater Kelly syndrome

A rare condition involving genitourinary anomalies and intellectual disability.

Schnitzler syndrome

An autoinflammatory disorder with urticarial rash and monoclonal gammopathy.

Schöpf–Schulz–Passarge syndrome

A rare ectodermal dysplasia with eyelid cysts, palmoplantar keratoderma, and hypodontia.

Schwartz–Jampel syndrome

A genetic condition causing myotonia and skeletal dysplasia.

Scimitar syndrome

A congenital heart defect with anomalous pulmonary venous return to the inferior vena cava.

Scott syndrome

A rare bleeding disorder caused by defective platelet procoagulant activity.

Seaver Cassidy syndrome

A rare genetic disorder with intellectual disability and facial dysmorphism.

Seckel syndrome

A rare growth disorder with dwarfism, microcephaly, and intellectual disability.

Second-impact syndrome

A rapid and severe brain swelling that occurs after a second concussion before recovery from the first.

Secretan's syndrome

A post-traumatic edema of the hand, often seen in malingering or factitious disorders.

Seed dispersal syndrome

A metaphorical term used in psychiatric literature to describe psychotic fragmentation.

Senior–Løken syndrome

A ciliopathy causing nephronophthisis and retinal degeneration, leading to blindness and kidney failure.

Sensenbrenner syndrome

A ciliopathy with skeletal anomalies, craniofacial dysmorphism, and renal disease.

Septo-optic dysplasia

A congenital condition with optic nerve hypoplasia, pituitary dysfunction, and midline brain defects.

Serkal syndrome

A disorder causing 46,XX sex reversal and abnormal ovarian development.

Serotonin syndrome

A potentially life-threatening condition from excess serotonergic activity, often drug-induced.

Serpentine fibula-polycystic kidney syndrome

A rare syndrome with limb bone malformation and kidney cysts.

Sertoli cell-only syndrome

A cause of male infertility where seminiferous tubules contain only Sertoli cells.

Serum sickness–like reaction

A hypersensitivity reaction resembling serum sickness but without immune complex deposition.

Setleis syndrome

A facial skin disorder with bitemporal scar-like depressions and abnormal eyelashes.

Severe acute respiratory syndrome

A viral respiratory illness caused by a coronavirus, known as SARS.

Sézary disease

An aggressive leukemic form of cutaneous T-cell lymphoma characterized by erythroderma and circulating Sézary cells.

Shaken baby syndrome

A form of abusive head trauma caused by violently shaking an infant.

Shapiro syndrome

A rare disorder with episodic hypothermia and agenesis of the corpus callosum.

Sheehan's syndrome

Postpartum pituitary necrosis due to severe blood loss during or after childbirth.

Shell nail syndrome

A rare nail disorder where nails appear concave and thinned, resembling a shell.

Shone's syndrome

A congenital heart condition involving multiple left-sided obstructive lesions.

Short anagen syndrome

A hair growth disorder where hair remains in the growth phase for a short duration.

Short bowel syndrome

A malabsorption disorder caused by surgical removal of large portions of the small intestine.

Short man syndrome

A colloquial term for perceived overcompensation behaviors in short-statured men; not a clinical diagnosis.

Short QT syndrome

A rare cardiac channelopathy causing a shortened QT interval and increased risk of arrhythmias.

Short rib – polydactyly syndrome

A lethal skeletal dysplasia with short ribs, polydactyly, and organ malformations.

SHORT syndrome

A genetic disorder with short stature, hyperextensibility, ocular depression, and delayed dentition.

Shwachman–Diamond syndrome

A genetic condition with pancreatic insufficiency, bone marrow dysfunction, and skeletal anomalies.

Shy-Drager syndrome

A former term for multiple system atrophy with autonomic failure.

Sick building syndrome

A condition where occupants experience health issues linked to time spent in a specific building.

Sick sinus syndrome

A group of heart rhythm disorders involving malfunction of the sinus node.

Silver–Russell syndrome

A growth disorder with prenatal/postnatal growth retardation, triangular face, and limb asymmetry.

Simpson–Golabi–Behmel syndrome

A genetic overgrowth syndrome with coarse facial features and congenital anomalies.

Singleton Merten syndrome

A rare genetic disorder with dental anomalies, aortic calcification, and skeletal defects.

Situs ambiguus

A congenital condition with abnormal arrangement of internal organs, often with cardiac defects.

Sjögren–Larsson syndrome

A rare metabolic disorder causing ichthyosis, spasticity, and intellectual disability.

Sjögren's syndrome

An autoimmune disorder causing dry eyes, dry mouth, and systemic manifestations.

Skeeter syndrome

An exaggerated local allergic reaction to mosquito bites.

Skin fragility syndrome

A condition characterized by easily blistered or torn skin due to mutations affecting adhesion.

Sliding uncus syndrome

A neurosurgical term for uncal herniation due to increased intracranial pressure.

Sly syndrome

A mucopolysaccharidosis (type VII) with hepatosplenomegaly, skeletal abnormalities, and developmental delay.

Small intestinal bacterial overgrowth

A digestive disorder with excessive bacteria in the small intestine causing bloating and diarrhea.

Small Penis Syndrome

A body image concern where a man believes his penis is smaller than it actually is.

Smith–Fineman–Myers syndrome

A rare X-linked syndrome with facial anomalies and intellectual disability.

Smith–Lemli–Opitz syndrome

A cholesterol metabolism disorder causing birth defects and intellectual disability.

Smith–Magenis syndrome

A developmental disorder with sleep disturbances, intellectual disability, and behavioral issues.

Smith Martin Dodd syndrome

A poorly characterized condition involving intellectual disability and dysmorphic features.

Snapping hip syndrome

A condition causing a snapping sensation in the hip during movement, often due to tendon motion.

Snapping scapula syndrome

A condition where movement of the shoulder blade causes a grinding or snapping sound.

Sneddon's syndrome

A rare disorder involving livedo reticularis and ischemic strokes, often associated with antiphospholipid antibodies.

Solipsism syndrome

A delusional state in which a person feels the external world is not real; seen in extreme isolation.

Somatostatinoma syndrome

A rare neuroendocrine tumor causing diabetes, gallstones, steatorrhea, and weight loss.

Sopite syndrome

A form of motion sickness characterized primarily by drowsiness and fatigue.

Sotos syndrome

A genetic disorder with overgrowth, advanced bone age, and developmental delays.

Space adaptation syndrome

Motion sickness experienced by astronauts during space travel.

Spastic ataxia-corneal dystrophy syndrome

A rare condition with spastic gait, ataxia, and corneal opacities.

Spider lamb syndrome

A genetic defect in sheep causing skeletal deformities; studied as an animal model.

Splenic flexure syndrome

A type of functional bowel disorder causing bloating and pain in the upper left abdomen.

Split hand syndrome

A neurological sign where thenar muscle wasting is more prominent than hypothenar, often due to ALS.

Spondylo-ocular syndrome

A genetic disorder with skeletal dysplasia and eye abnormalities.

SPRED1

A gene mutation associated with Legius syndrome, similar to neurofibromatosis type 1.

Staphylococcal scalded skin syndrome

A serious skin infection in children caused by Staphylococcus aureus toxins.

STAR syndrome

A rare X-linked disorder involving Syndactyly, Telecanthus, Anogenital malformations, and Renal anomalies.

Stauffer syndrome

A paraneoplastic hepatic dysfunction usually associated with renal cell carcinoma.

Stendhal syndrome

A psychosomatic condition triggered by exposure to art, causing dizziness or hallucinations.

Steroid dementia syndrome

Cognitive impairment believed to be caused by prolonged corticosteroid use.

Stevens–Johnson syndrome

A severe mucocutaneous reaction often caused by medications, leading to skin detachment.

Stewart–Treves syndrome

A rare lymphangiosarcoma occurring in chronically lymphedematous limbs.

Stickler syndrome

A connective tissue disorder affecting the eyes, joints, and facial development.

Sticky platelet syndrome

A condition causing platelet hyperaggregability and an increased risk of thrombosis.

Sticky skin syndrome

A condition characterized by generalized skin tackiness, often due to systemic illness or medications.

Stiff person syndrome

A rare neurological disorder causing muscle stiffness and painful spasms.

Stiff skin syndrome

A congenital connective tissue disorder with rock-hard skin and restricted joint mobility.

Stimmler syndrome

A metabolic disorder involving lactic acidosis, hypotonia, and developmental delays.

Stockholm syndrome

A psychological response where hostages develop positive feelings toward their captors.

Straight back syndrome

A condition where the thoracic spine is abnormally straight, potentially affecting heart and lung function.

Stratton Parker syndrome

A rare disorder involving craniofacial and skeletal anomalies.

Streff syndrome

A visual condition in children involving reduced acuity and binocular dysfunction, often linked to stress.

Strømme syndrome

A rare genetic condition with microcephaly, intestinal atresia, and eye defects.

Stuck song syndrome

A type of musical obsession where a tune is involuntarily repeated in one’s mind.

Student syndrome

A planning fallacy where work starts only just before the deadline; not a medical condition.

Sturge–Weber syndrome

A neurocutaneous disorder with facial port-wine stains, seizures, and leptomeningeal angiomas.

Subclavian steal syndrome

A vascular condition where blood flow is reversed in the vertebral artery due to subclavian stenosis.

Sudden death syndrome

Unexpected cardiac death, often in young athletes, due to undiagnosed heart conditions.

Sudden infant death syndrome

Unexplained death of a seemingly healthy infant during sleep.

Sudden wealth syndrome

A psychological struggle with identity, trust, and guilt after acquiring sudden wealth.

Sugarman syndrome

A rare congenital disorder featuring developmental delay and physical abnormalities.

Sulfonamide hypersensitivity syndrome

A severe allergic reaction to sulfonamide drugs, often involving rash and organ damage.

Summer penile syndrome

A pediatric condition with penile swelling and itching due to insect bites or contact irritation.

Sundowning

Increased confusion and agitation in dementia patients during the late afternoon or evening.

Superior mesenteric artery syndrome

Compression of the duodenum between the aorta and SMA, causing bowel obstruction.

Superior orbital fissure syndrome

A neurological disorder affecting cranial nerves passing through the superior orbital fissure.

Superior vena cava syndrome

Obstruction of the superior vena cava leading to swelling and venous congestion.

Supernumerary nipples–uropathies–Becker's nevus syndrome

A rare syndrome involving additional nipples, urinary tract anomalies, and skin changes.

Supernumerary phantom limb

A neurological condition where a person perceives an extra limb that does not exist.

Survivor syndrome

A psychological condition in disaster or trauma survivors marked by guilt and anxiety.

Susac's syndrome

An autoimmune disease affecting brain, retina, and inner ear leading to encephalopathy, vision, and hearing loss.

Sweet's syndrome

A skin condition with fever and painful skin lesions, often linked to malignancy or infection.

Swyer–James syndrome

A rare lung disorder caused by post-infectious bronchiolitis obliterans, leading to a hyperlucent lung on X-ray.

Syndrome of inappropriate antidiuretic hormone secretion

A condition where excess ADH leads to water retention and hyponatremia.

Syndrome of subjective doubles

A delusional misidentification syndrome where a person believes they have a physical double.

Syndrome Without A Name

A term used by rare disease communities when a child has undiagnosed symptoms not matching any known condition.

Systemic inflammatory response syndrome

A widespread inflammatory state affecting the whole body, often triggered by infection, trauma, or burns.

T

TAFRO Syndrome

A rare inflammatory disorder with thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly.

Talk and Die Syndrome

A condition where a person appears lucid after head trauma but rapidly deteriorates due to brain bleeding.

TAN Syndrome

A rare condition involving short stature, skeletal anomalies, and facial dysmorphism; under-characterized in literature.

Tardive Dyskinesia

A neurological disorder caused by long-term use of antipsychotic drugs, resulting in involuntary movements.

Tardive Psychosis

A proposed worsening of psychosis due to long-term neuroleptic treatment; not universally accepted.

Tarsal Tunnel Syndrome

Compression of the tibial nerve in the ankle causing pain, tingling, and numbness in the foot.

TAR Syndrome

Thrombocytopenia with absent radius syndrome—congenital absence of radius bone and low platelet count.

Taura Syndrome

A viral disease affecting shrimp, causing lethargy, muscle opacity, and high mortality in aquaculture.

Taussig–Bing Syndrome

A congenital heart defect featuring double outlet right ventricle with subpulmonary VSD.

Tea and Toast Syndrome

Malnutrition in the elderly due to poor diet lacking essential nutrients, especially folate and B12.

TEMPI Syndrome

A rare condition with Telangiectasias, Erythrocytosis, Monoclonal gammopathy, Perinephric fluid collections, and Intrapu...

Temple–Baraitser Syndrome

A genetic disorder with intellectual disability, epilepsy, and broad great toes and thumbs.

Tension Myositis Syndrome

A mind-body condition proposed by Dr. Sarno where psychological stress causes chronic back pain.

Terson Syndrome

Intraocular hemorrhage associated with subarachnoid hemorrhage or severe intracranial bleeding.

Testicular Dysgenesis Syndrome

A hypothesis linking fetal testicular development disruption to male reproductive disorders.

Tetra-amelia Syndrome

A rare genetic disorder characterized by the absence of all four limbs.

Tetralogy of Fallot

A congenital heart defect with four abnormalities, including VSD and pulmonary stenosis.

Teunissen–Cremers Syndrome

A rare genetic syndrome involving hearing loss and joint hypermobility.

Thevenard Syndrome

A hereditary sensory neuropathy with ulcers, infections, and auto-amputation of digits.

Thoracic Insufficiency Syndrome

A condition where the chest cannot support normal breathing or lung growth, often requiring surgery.

Thoracic Outlet Syndrome

Compression of nerves or blood vessels in the thoracic outlet area causing pain and numbness.

Thrombotic Thrombocytopenic Purpura

A rare blood disorder causing small clots, low platelets, and organ damage.

Thymoma with Immunodeficiency

A rare syndrome combining thymoma and severe immunodeficiency, also called Good’s syndrome.

Tietze Syndrome

A benign inflammation of the costal cartilage causing chest wall pain and swelling.

Tietz Syndrome

A rare autosomal dominant condition with albinism and congenital deafness.

Timothy Syndrome

A rare genetic disorder with prolonged QT interval, syndactyly, and developmental delays.

TNF Receptor Associated Periodic Syndrome

An autoinflammatory disorder with recurrent fever, rash, and joint pain caused by TNFRSF1A mutations.

Tolosa–Hunt Syndrome

A rare disorder causing painful ophthalmoplegia due to inflammation in the cavernous sinus.

Tonic Tensor Tympani Syndrome

A rare cause of ear pain and fullness due to abnormal contraction of the middle ear muscle.

Tooth and Nail Syndrome

A genetic ectodermal dysplasia characterized by missing or abnormal teeth and nails.

TORCH Syndrome

A group of congenital infections (Toxoplasmosis, Rubella, CMV, HSV, etc.) that affect fetal development.

Tourette Syndrome

A neurological disorder involving repetitive, involuntary movements and vocal tics.

Townes–Brocks Syndrome

A rare condition with ear, thumb, and anal malformations caused by SALL1 mutations.

Toxic Anterior Segment Syndrome

A sterile inflammation of the anterior eye segment after surgery due to toxins or contaminants.

Toxic Oil Syndrome

A mass poisoning in Spain in 1981 caused by contaminated rapeseed oil, leading to multisystem disease.

Toxic Shock Syndrome

A life-threatening condition caused by bacterial toxins, often associated with tampon use.

Tracheobronchomegaly

An abnormal dilation of the trachea and bronchi, also known as Mounier–Kuhn syndrome.

Transurethral Resection of the Prostate Syndrome

A rare complication of TURP surgery involving fluid absorption and electrolyte imbalance.

Transverse Myelitis

Inflammation of the spinal cord causing weakness, sensory loss, and autonomic dysfunction.

Treacher Collins Syndrome

A genetic disorder causing craniofacial abnormalities due to TCOF1 or related gene mutations.

Trench Foot

A condition caused by prolonged exposure to cold, wet conditions, leading to tissue damage in the feet.

Tricho–dento–osseous Syndrome

A genetic condition affecting hair, teeth, and bones with enamel hypoplasia and curly hair.

Tricho-hepato-enteric Syndrome

A rare congenital disorder causing intractable diarrhea, facial dysmorphism, and hair abnormalities.

Tricho–rhino–phalangeal Syndrome

A genetic syndrome with craniofacial abnormalities, short stature, and cone-shaped epiphyses.

Trichothiodystrophy

A genetic disorder with brittle hair, intellectual disability, and photosensitivity due to DNA repair defects.

Trigeminal Trophic Syndrome

A rare condition resulting from trigeminal nerve damage, leading to facial ulceration and numbness.

Triple X Syndrome

A chromosomal disorder in females with an extra X chromosome, often asymptomatic or mild effects.

Triploid Syndrome

A lethal chromosomal abnormality with three sets of chromosomes, causing severe birth defects.

Trisomy 8

A chromosomal disorder where a third copy of chromosome 8 is present, often seen in mosaic form.

Tropical Splenomegaly Syndrome

A condition common in malaria-endemic regions characterized by massive spleen enlargement.

Trotter's Syndrome

A rare syndrome with conductive deafness, trismus, and pain due to nasopharyngeal carcinoma.

Truman Syndrome

A delusional belief that one is the subject of a reality TV show; related to persecutory delusions.

Tsukuhara Syndrome

A rare disorder featuring facial dysmorphism, limb anomalies, and growth retardation.

Tumor Lysis Syndrome

A life-threatening condition caused by rapid breakdown of cancer cells, leading to metabolic abnormalities.

Tumor Necrosis Factor Receptor Associated Periodic Syndrome

An autoinflammatory disorder with recurrent fevers, rash, and joint inflammation.

Turner Syndrome

A chromosomal disorder in females with complete or partial absence of one X chromosome.

Twiddler's Syndrome

A pacemaker malfunction due to patient manipulation of the device, leading to lead displacement.

Twin Anemia-Polycythemia Sequence

A complication of monochorionic twin pregnancies with one twin anemic and the other polycythemic.

Twin-to-Twin Transfusion Syndrome

A prenatal condition in monochorionic twins where blood is unevenly shared through placental vessels.

U

Ulysses Syndrome

A stress-related condition seen in migrants due to chronic and overwhelming distress from migration-related challenges.

Uncombable Hair Syndrome

A rare structural anomaly of the hair shaft causing frizzy, dry, and unmanageable hair in children.

Uner Tan Syndrome

A controversial condition involving quadrupedal locomotion, intellectual disability, and impaired balance.

Upper Airway Resistance Syndrome

A sleep disorder with increased airway resistance causing arousals and excessive daytime sleepiness.

Upper Motor Neuron Syndrome

A neurological condition resulting from damage to motor pathways, causing spasticity, weakness, and hyperreflexia.

Upshaw–Schulman Syndrome

A hereditary thrombotic thrombocytopenic purpura due to ADAMTS13 enzyme deficiency.

Urban–Rogers–Meyer Syndrome

A rare genetic condition with genital abnormalities, intellectual disability, and facial dysmorphism.

Urban Survival Syndrome

A proposed psychological defense in criminal cases involving individuals in violent environments; not a medically recogn...

Urethral Syndrome

A condition with urethral irritation symptoms resembling UTI, but with no infection found.

Urofacial Syndrome

A genetic disorder with abnormal facial expression and bladder dysfunction leading to urinary retention.

Urticarial Vasculitis

A form of vasculitis presenting with long-lasting hives, often associated with systemic symptoms.

Usher Syndrome

An inherited condition causing hearing loss and progressive vision loss due to retinitis pigmentosa.

UV-sensitive Syndrome

A rare genetic disorder marked by extreme sensitivity to ultraviolet light and DNA repair defects.

V

VACTERL Association

A non-random association of birth defects affecting vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.

Valentino's Syndrome

A condition where a perforated duodenal ulcer mimics acute appendicitis due to retroperitoneal leakage.

Van der Woude Syndrome

A genetic disorder with cleft lip/palate and lower lip pits, inherited in an autosomal dominant pattern.

Van Gogh Syndrome

A psychiatric condition where individuals self-mutilate due to psychosis, named after Vincent van Gogh.

Vanishing Bile Duct Syndrome

A rare liver disease characterized by progressive loss of intrahepatic bile ducts, leading to cholestasis.

Van Wyk and Grumbach Syndrome

A syndrome of hypothyroidism, delayed bone age, and precocious puberty in children.

Vascular Access Steal Syndrome

A complication of dialysis access where blood is diverted away from the distal limb, causing ischemia.

Vasoplegic Syndrome

A state of profound low vascular resistance and hypotension, often after cardiac surgery.

Ververi-Brady Syndrome

A rare genetic disorder causing intellectual disability, hypotonia, and facial dysmorphism.

Vestibulocerebellar Syndrome

A disorder affecting the balance and coordination centers of the brain, leading to vertigo and ataxia.

Vici Syndrome

A rare multisystem disorder involving callosal agenesis, cataracts, cardiomyopathy, and immune deficiency.

Villaret’s Syndrome

A neurological condition involving multiple cranial nerve palsies due to retroparotid space lesions.

VIPoma

A rare neuroendocrine tumor that secretes vasoactive intestinal peptide, causing severe watery diarrhea and electrolyte ...

VIP Syndrome

A situation where prominent or high-profile patients receive substandard care due to provider bias or deviation from pro...

Visual Looming Syndrome

A perceptual disorder where incoming visual stimuli are misinterpreted as threatening or rapidly approaching.

Vitreous Touch Syndrome

A post-surgical eye complication where the vitreous contacts the corneal endothelium, causing vision problems.

Vogt–Koyanagi–Harada Disease

An autoimmune condition affecting pigmented tissues, leading to uveitis, hearing loss, and meningitis-like symptoms.

Von Hippel–Lindau Disease

A hereditary cancer syndrome causing hemangioblastomas, kidney tumors, and pheochromocytomas.

Vulvodynia

Chronic vulvar pain without an identifiable cause, often burning or stinging in nature.

W

Waardenburg Syndrome

A genetic disorder characterized by hearing loss and pigmentary abnormalities of the hair, skin, and eyes.

WAGR Syndrome

A rare genetic condition involving Wilms tumor, Aniridia, Genitourinary anomalies, and intellectual disability.

Walker–Warburg Syndrome

A severe congenital muscular dystrophy with brain and eye malformations, usually fatal in early infancy.

Wallis–Zieff–Goldblatt Syndrome

A rare inherited disorder characterized by short stature, brachydactyly, and facial abnormalities.

Waltman Walter Syndrome

A post-surgical complication of cholecystectomy involving fluid collection in the subhepatic space.

Warkany Syndrome 1

An X-linked syndrome once proposed to explain intellectual disability in males; now considered obsolete.

Warmblood Fragile Foal Syndrome

A genetic connective tissue disorder in horses causing extreme skin fragility and fatal birth defects.

Wartenberg's Syndrome

A neuropathy of the superficial radial nerve causing pain and paresthesia on the back of the hand.

Waterhouse–Friderichsen Syndrome

An acute adrenal gland failure due to hemorrhage, typically caused by severe meningococcal infection.

Watson Syndrome

A rare disorder resembling neurofibromatosis type 1, with café-au-lait spots and pulmonary stenosis.

Weaver Syndrome

A genetic overgrowth syndrome with advanced bone age, intellectual disability, and distinctive facial features.

Weber's Syndrome

A brainstem stroke syndrome involving the midbrain, causing oculomotor palsy and contralateral hemiparesis.

Weill–Marchesani Syndrome

A connective tissue disorder with short stature, brachydactyly, and eye abnormalities like lens dislocation.

Weismann-Netter–Stuhl Syndrome

A skeletal dysplasia characterized by bowed tibiae and fibulae and short stature.

Weissenbacher–Zweymüller Syndrome

A rare congenital disorder involving skeletal dysplasia and facial anomalies.

Wellens' Syndrome

An ECG pattern indicating critical stenosis of the left anterior descending artery and risk of MI.

Wende–Bauckus Syndrome

A rare condition involving limb abnormalities and growth retardation; poorly characterized in literature.

Werner Syndrome

A premature aging disorder (progeria) with early graying, cataracts, diabetes, and cancer predisposition.

Wernicke–Korsakoff Syndrome

A neurological disorder caused by thiamine deficiency, often seen in alcoholics, involving confusion and memory loss.

Westerhof Syndrome

A rare genetic disorder involving vitiligo and congenital deafness.

West Syndrome

A severe epilepsy syndrome in infants characterized by infantile spasms, developmental regression, and hypsarrhythmia.

Wet lung Syndrome in newborn

A respiratory condition in newborns due to delayed clearance of fetal lung fluid.

WHIM Syndrome

A rare immunodeficiency marked by Warts, Hypogammaglobulinemia, Infections, and Myelokathexis.

White dog shaker Syndrome

A condition in small white dog breeds causing generalized tremors, likely autoimmune in origin.

White dot Syndromes

A group of inflammatory eye diseases with white spots in the retina, including MEWDS and PIC.

White-nose Syndrome

A fungal infection devastating bat populations, identified by white growth around the nose.

White spot Syndrome

A highly lethal viral disease affecting shrimp and other crustaceans in aquaculture.

Wiedemann–Rautenstrauch Syndrome

A neonatal progeroid syndrome marked by premature aging and growth restriction.

Wiedemann-Steiner Syndrome

A genetic disorder with intellectual disability, short stature, and characteristic facial features.

Wildervanck Syndrome

A rare condition involving Duane anomaly, hearing loss, and fusion of cervical vertebrae.

Williams–Campbell Syndrome

A rare lung disorder due to defective cartilage in the bronchi, leading to bronchiectasis.

Williams Syndrome

A developmental disorder with characteristic facial features, cardiovascular disease, and friendly personality.

Wilson–Mikity Syndrome

A neonatal lung condition causing chronic respiratory distress in premature infants without RDS history.

Wilson's temperature Syndrome

A controversial diagnosis of low body temperature and hypothyroid-like symptoms despite normal labs.

Wilson–Turner Syndrome

A rare X-linked condition with intellectual disability, obesity, and hypogonadism in males.

Winchester Syndrome

A rare connective tissue disorder with joint contractures, osteoporosis, and skin thickening.

Winter-over Syndrome

A psychological condition seen in Antarctic expeditioners, involving depression, irritability, and cognitive issues.

Wiskott–Aldrich Syndrome

An X-linked immunodeficiency causing eczema, thrombocytopenia, and recurrent infections.

Wissler's Syndrome

An obsolete term previously used for Still’s disease with features of systemic juvenile arthritis.

Withdrawal Syndrome

A group of symptoms that occur after stopping or reducing intake of addictive substances.

Withering abalone Syndrome

A fatal disease in abalone caused by intracellular bacteria, leading to starvation and shell atrophy.

Wobbly hedgehog Syndrome

A progressive neurological disease in hedgehogs causing ataxia, weight loss, and paralysis.

Wolcott–Rallison Syndrome

A rare autosomal recessive disorder causing neonatal diabetes, skeletal dysplasia, and liver failure.

Wolff–Parkinson–White Syndrome

A heart condition with abnormal electrical pathways causing episodes of rapid heartbeat (tachycardia).

Wolf–Hirschhorn Syndrome

A genetic disorder caused by deletion on chromosome 4, leading to facial dysmorphism, growth delay, and seizures.

Wolfram Syndrome

A rare genetic disorder also called DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

Woodhouse–Sakati Syndrome

A rare autosomal recessive condition with alopecia, hypogonadism, diabetes, and neurological symptoms.

Work-related musculoskeletal Disorders

A group of conditions caused by repetitive strain or poor ergonomics in the workplace, affecting muscles, nerves, and te...

Worster-Drought Syndrome

A type of congenital suprabulbar paresis causing speech and swallowing difficulties due to cerebral palsy.

Worth Syndrome

A rare autosomal dominant condition characterized by dense bones and benign familial hyperostosis.

Wrinkly skin Syndrome

A connective tissue disorder marked by loose, wrinkled skin and developmental delays.

X

Xeroderma pigmentosum

A genetic condition causing extreme UV sensitivity and high skin cancer risk due to defective DNA repair.

Xia-Gibbs Syndrome

A rare genetic disorder marked by developmental delay, hypotonia, sleep apnea, and distinctive facial features.

X-linked lymphoproliferative disease

A rare immune disorder in males causing extreme sensitivity to Epstein–Barr virus and risk of lymphoma.

XX male Syndrome

A rare disorder where individuals with two X chromosomes develop male characteristics due to SRY gene translocation.

XXXY Syndrome

A chromosomal condition in males with intellectual disability, tall stature, and infertility due to extra X chromosomes.

XXYY Syndrome

A sex chromosome aneuploidy in males leading to developmental, behavioral, and physical abnormalities.

XY gonadal dysgenesis

A disorder of sex development where individuals with XY chromosomes have underdeveloped or nonfunctional gonads.

XYY Syndrome

A genetic condition in males with an extra Y chromosome, often asymptomatic but may include tall stature and mild learni...

Y

Yellow nail Syndrome

A rare condition characterized by yellow, thickened nails, lymphedema, and respiratory issues.

Yemenite deaf-blind hypopigmentation Syndrome

A very rare genetic disorder with deafness, blindness, and skin/hair hypopigmentation, observed in Yemenite Jewish famil...

Yentl Syndrome

Refers to underdiagnosis or misdiagnosis of heart disease in women due to male-centric diagnostic models.

Yim–Ebbin Syndrome

An extremely rare condition with skeletal abnormalities, developmental delay, and craniofacial features.

Young–Madders Syndrome

A rare genetic syndrome involving limb anomalies, craniofacial abnormalities, and developmental delay.

Young–Simpson Syndrome

A rare congenital disorder characterized by hypothyroidism, intellectual disability, and distinctive facial features.

Young's Syndrome

A disorder with bronchiectasis, rhinosinusitis, and obstructive azoospermia, leading to male infertility.

Yunis–Varon Syndrome

A severe multisystem disorder involving skeletal defects, cleft palate, and developmental delay.

Yunnan sudden death Syndrome

A mysterious cardiac-related sudden death occurring in Yunnan province, often linked to seasonal environmental factors.

Z

Zadik–Barak–Levin Syndrome

A rare syndrome characterized by severe mental retardation, distinctive facial features, and skeletal abnormalities.

Zamzam–Sheriff–Phillips Syndrome

A rare autosomal recessive disorder involving eye anomalies, kidney abnormalities, and ectodermal dysplasia.

Zechi-Ceide Syndrome

A rare condition marked by cleft lip/palate, hypertelorism, developmental delay, and limb anomalies.

Zellweger Syndrome

A peroxisomal biogenesis disorder causing hypotonia, seizures, liver dysfunction, and craniofacial dysmorphism.

Zieve's Syndrome

A condition characterized by hemolytic anemia, hyperlipidemia, and transient liver dysfunction, often seen in chronic al...

Zimmermann–Laband Syndrome

A rare genetic disorder involving gingival fibromatosis, facial dysmorphism, and skeletal anomalies like hypoplasia of n...

Zollinger–Ellison Syndrome

A disorder caused by gastrin-secreting tumors leading to recurrent peptic ulcers and excessive gastric acid production.

Zori–Stalker–Williams Syndrome

A rare congenital syndrome featuring short stature, craniofacial anomalies, and intellectual disability.