Feingold syndrome

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DiseasesDB = 33706
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OMIM = 164280
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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 [Teszas et al. 2006: "Expanding the clinical spectrum of MYCN-related Feingold syndrome" Am J Med Genet Part A 140A:2254-2256]

Characteristics

Feingold syndrome is marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and sometimes learning disability or mental retardation [Celli et al. 2003: "Feingold syndrome: clinical review and genetic mapping" Am J Med Genet Part A 122(4):294-300] .

Diagnosis and treatment

The diagnosis is based on the following clinical findings:
*microcephaly
*clinodactyly and shortness of index and little fingers
*syndactyly of 2nd & 3rd and 4th & 5th toe
*short palpebral fissures
*esophageal and/or duodenal atresia

Genetic etiology

Feingold syndrome is caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN; OMIM 164840 [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840&a=164840_AllelicVariant0001] ) which is located on the short arm of chromosome 2 (2p24.1).

References

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