Feingold syndrome
From Infogalactic: the planetary knowledge core
| Feingold syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 164280 |
| DiseasesDB | 33706 |
| Patient UK | Feingold syndrome |
| GeneReviews | |
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]
Contents
Characteristics
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
Feingold Syndrome is inherited in an autosomal dominant fashion.
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:
- 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
