Feingold syndrome

Feingold syndrome (also known as oculodigitoesophagoduodenal syndrome or ODED syndrome) is a rare genetic disorder characterized by a distinctive combination of congenital anomalies affecting multiple body systems. The condition is caused by heterozygous mutations or deletions in the MYCN gene on chromosome 2p24.3 (Feingold syndrome type 1) or by deletions of the MIR17HG gene encoding the miR-17~92 polycistronic microRNA cluster on chromosome 13q31.3 (Feingold syndrome type 2). Type 1 is the more common and well-characterized form. The hallmark features of Feingold syndrome include gastrointestinal atresias (particularly esophageal and duodenal atresia), microcephaly, limb anomalies (especially short phalanges and clinodactyly of the second and fifth fingers, and syndactyly of the toes), and mild to moderate intellectual disability or learning difficulties. Gastrointestinal atresias, present in approximately 50% of affected individuals, may be life-threatening in the neonatal period and typically require surgical correction shortly after birth. Facial features may include short palpebral fissures, a broad nasal tip, and micrognathia. Cardiac and renal anomalies have also been reported in some patients. There is no cure for Feingold syndrome, and management is primarily supportive and symptom-directed. Surgical intervention is often necessary for gastrointestinal atresias in the newborn period. Developmental support, including speech therapy and educational interventions, may be beneficial for children with learning difficulties. Regular monitoring by a multidisciplinary team including geneticists, gastroenterologists, and developmental specialists is recommended. Genetic counseling is important for affected families given the autosomal dominant inheritance pattern, with each affected individual having a 50% chance of passing the condition to their offspring.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Feingold syndrome