OMIM 164280 GeneReviews Feingold Syndrome 1 | DiseasesDB 33706 | |
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Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant hereditary disorder. It is named after Murray Feingold, an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide.
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Characteristics
Feingold syndrome is marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and sometimes learning disability or mental retardation.
Genetics and cause
Feingold syndrome is caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN) which is located on the short arm of chromosome 2 (2p24.1).
Diagnosis and treatment
The diagnosis is based on the following clinical findings:
References
Feingold syndrome Wikipedia(Text) CC BY-SA