Stickler syndrome

Overview

Stickler syndrome is a genetic connective tissue disorder that primarily affects the development of the eyes, ears, skeleton, and joints. It is one of the most common causes of hereditary arthritis and is characterized by distinctive facial features, hearing loss, eye abnormalities, and joint problems. The syndrome is named after Dr. Gunnar Stickler, who first described the condition in the 1960s.

Stickler syndrome is a lifelong condition with a wide range of severity and symptoms. Early diagnosis and multidisciplinary care are essential to manage complications and improve quality of life.

Causes

Stickler syndrome is caused by mutations in genes responsible for producing collagen, a vital protein in connective tissues. The most commonly affected genes include COL2A1, COL11A1, and COL11A2. These genes code for different types of collagen that are essential for normal development of cartilage, vitreous humor of the eye, and other tissues.

The condition is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from one parent can cause the disorder. In some cases, it may occur due to new mutations with no family history.

Symptoms

The symptoms of Stickler syndrome can vary widely but generally include:

Ocular Features

• High myopia (severe nearsightedness)

• Vitreous abnormalities leading to increased risk of retinal detachment

• Cataracts developing at a young age

• Glaucoma

• Vision loss if retinal detachment occurs

Auditory Features

• Sensorineural or conductive hearing loss

• Frequent ear infections in childhood

Skeletal and Joint Features

• Joint hypermobility and early-onset arthritis

• Spinal abnormalities such as scoliosis or spondyloepiphyseal dysplasia

• Flattened facial features including a small nose and a flat midface (midfacial hypoplasia)

• Delayed motor development in some cases

Other Features

• Speech difficulties due to cleft palate or micrognathia

• Respiratory issues associated with palatal abnormalities

Diagnosis

Diagnosis of Stickler syndrome is based on clinical evaluation, family history, and genetic testing. The diagnostic process involves:

• Clinical examination: Identification of characteristic facial features, joint abnormalities, and eye findings.

• Ophthalmologic evaluation: Comprehensive eye exams to detect myopia, vitreous anomalies, or retinal detachment.

• Hearing tests: Audiometry to assess hearing loss.

• Imaging studies: X-rays or MRI of the spine and joints to evaluate skeletal abnormalities.

• Genetic testing: Molecular analysis of collagen genes to confirm diagnosis and assist with family counseling.

Treatment

There is no cure for Stickler syndrome, so treatment focuses on managing symptoms and preventing complications:

Ophthalmologic Care

• Regular eye exams to monitor for retinal detachment and other complications

• Early surgical intervention for retinal detachment or cataracts

• Use of corrective lenses for myopia

Hearing Management

• Hearing aids or cochlear implants for significant hearing loss

• Prompt treatment of ear infections

Orthopedic Care

• Physical therapy to improve joint stability and mobility

• Medications or surgery for joint pain and arthritis

• Monitoring and treatment of spinal deformities

Other Supportive Treatments

• Speech therapy for palate-related speech difficulties

• Multidisciplinary care involving ophthalmologists, audiologists, orthopedic specialists, and genetic counselors

Prognosis

The prognosis of Stickler syndrome varies depending on the severity of symptoms and complications. Many individuals live normal lifespans with appropriate management. Early detection of eye problems and prompt treatment of retinal detachment are critical to preserving vision. Hearing loss can be managed effectively with aids, and joint symptoms can be controlled with therapy and medication.

Ongoing medical care and surveillance can greatly improve quality of life and reduce the impact of the syndrome’s complications.