Feingold syndrome

Autosomal dominant - en

Feingold syndrome is a rare genetic disorder characterized by a combination of physical abnormalities and developmental delays. It is also known as Oculodigitoesophagoduodenal syndrome. The syndrome is named after Dr. Murray Feingold, who first described the condition.

Presentation

Individuals with Feingold syndrome typically present with a range of congenital anomalies. Common features include:

• Microcephaly (small head size)
• Brachydactyly (short fingers and toes)
• Clinodactyly (curved fingers)
• Esophageal atresia (a congenital condition where the esophagus does not develop properly)
• Duodenal atresia (a congenital condition where the duodenum is closed off rather than being a tube)
• Learning disabilities and developmental delays

Genetics

Feingold syndrome is primarily caused by mutations in the MYCN gene, which plays a crucial role in cell growth and development. The condition is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for the disorder to be present.

Diagnosis

Diagnosis of Feingold syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the MYCN gene. Prenatal diagnosis may be possible through genetic testing if there is a known family history of the disorder.

Management

There is no cure for Feingold syndrome, and treatment is symptomatic and supportive. Management may involve:

• Surgical correction of esophageal atresia and duodenal atresia
• Physical therapy and occupational therapy to address developmental delays
• Special education services to support learning disabilities

Epidemiology

Feingold syndrome is a rare condition, and its exact prevalence is unknown. It affects both males and females equally.

See also

• Genetic disorder
• Congenital disorder
• Developmental delay
• MYCN

Related pages

• Microcephaly
• Brachydactyly
• Esophageal atresia
• Duodenal atresia
• Autosomal dominant
• Genetic testing