Feingold syndrome

Overview

Feingold syndrome is a rare genetic disorder characterized by a combination of physical abnormalities, skeletal defects, and developmental delays. The most prominent features include microcephaly (small head size), digital anomalies (such as clinodactyly or syndactyly), gastrointestinal atresias (particularly esophageal or duodenal), and varying degrees of learning disabilities or intellectual impairment. The syndrome was first described by Dr. Murray Feingold and is inherited in an autosomal dominant manner.

Causes

Feingold syndrome is most commonly caused by mutations or deletions in the MYCN gene located on chromosome 2p24. This gene plays a key role in cell growth, proliferation, and differentiation during development. In some cases, larger chromosomal deletions involving the MYCN gene and nearby regions may be responsible. The disorder follows an autosomal dominant inheritance pattern, meaning one copy of the mutated gene from an affected parent is sufficient to cause the syndrome. However, some cases arise due to new (de novo) mutations.

Symptoms

Feingold syndrome presents with a broad range of features, which can vary in severity between individuals. Common symptoms include:

• Microcephaly: Abnormally small head circumference.

• Digital anomalies:

  • Clinodactyly (curved fifth finger)

  • Syndactyly (fusion of fingers or toes)

  • Brachydactyly (short fingers or toes)

• Gastrointestinal defects: Most often esophageal or duodenal atresia, which can lead to feeding difficulties and require surgical correction.

• Developmental delays: Delays in speech, motor skills, or cognitive development.

• Facial features: May include a small jaw (micrognathia), narrow palpebral fissures, and prominent ears.

• Learning disabilities or intellectual disability: Varies from mild to moderate in severity.

Diagnosis

Diagnosis of Feingold syndrome is based on clinical features, family history, and genetic testing. Diagnostic steps may include:

• Clinical evaluation: Detailed physical examination to identify characteristic skeletal, craniofacial, and developmental abnormalities.

• Radiographic imaging: X-rays of the hands and feet to detect bone abnormalities.

• Genetic testing: Identification of mutations or deletions in the MYCN gene using molecular genetic analysis or chromosomal microarray testing.

• Family history assessment: To determine inheritance patterns or identify other affected family members.

• Developmental and cognitive assessment: To evaluate learning, speech, and motor skills.

Treatment

There is no cure for Feingold syndrome, and treatment is supportive and tailored to the individual's symptoms. Management may include:

• Gastrointestinal surgery: To correct esophageal or duodenal atresia if present.

• Occupational and physical therapy: To address motor delays and improve functional abilities.

• Speech therapy: For speech and language development issues.

• Educational support: Special education services or individualized learning plans for children with learning disabilities.

• Orthopedic care: Surgical or supportive management for severe skeletal anomalies.

• Regular monitoring: Ongoing evaluations by pediatricians, geneticists, and developmental specialists.

Prognosis

The prognosis for individuals with Feingold syndrome depends on the severity of associated features and complications. Many individuals lead relatively normal lives with appropriate medical and developmental support. Gastrointestinal anomalies can often be successfully treated with surgery, and developmental therapies can help maximize independence and learning potential. Early diagnosis and multidisciplinary management are essential to improving outcomes and quality of life.