Feingold syndrome
| Feingold syndrome | |
|---|---|
| Other names | Oculodigitoesophagoduodenal syndrome |
autosomal dominant fashion. | |
| Specialty | Medical genetics  |
Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare
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]
Presentation
Feingold syndrome is marked by various combinations of
malformations, esophageal and duodenal atresias. Cognition is affected, and ranges from below-average IQ to mild intellectual disability.[2]
Genetics
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). This syndrome has also been linked to microdeletions in the MIR17HG locus which encodes a micro RNA cluster known as miR-17/92.[3]
Diagnosis
The diagnosis is based on the following clinical findings:[citation needed]
- 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
Treatment
There is no known treatment for the disorder, but surgery for malformations, special education, and treatment of hearing loss are important.[4]
References
- S2CID 6384018.
- S2CID 38346834.
- PMID 18470948.
- ^ "Feingold Syndrome 1 | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2019-10-07.