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. [1 ]
Characteristics [ edit ]
Feingold syndrome is marked by various combinations of
microcephaly, limb malformations, esophageal and duodenal atresias, and sometimes learning disability or mental retardation. [2 ]
Genetics and cause [ edit ]
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 [ edit ]
The diagnosis is based on the following clinical findings:
References [ edit ]
^ Tészás A, Meijer R, Scheffer H, et al. (October 2006). "Expanding the clinical spectrum of MYCN-related Feingold syndrome". Am. J. Med. Genet. A 140 (20): 2254–6. doi: 10.1002/ajmg.a.31407. PMID 16906565.
^ Celli J, van Bokhoven H, Brunner HG (November 2003). "Feingold syndrome: clinical review and genetic mapping". Am. J. Med. Genet. A 122A (4): 294–300. doi: 10.1002/ajmg.a.20471. PMID 14518066.
External links [ edit ]