Feingold syndrome

Feingold syndrome, also called oculodigitoesophagoduodenal syndrome, is a rare inherited disorder passed on in an autosomal dominant pattern. It is named for the American physician Murray Feingold, who described it in 1975. The condition is marked by an unusually small head, shortened second and fifth fingers, fused toes, narrow eyelid openings, and a blockage of the esophagus or duodenum present from birth. Learning difficulties range from below-average intelligence to mild intellectual disability. Two types are recognised: the first is caused by changes in the MYCN gene, and the second by deletions on chromosome 13 that take in the MIR17HG gene. The two types share most features, but only the first is associated with digestive atresia. Management is supportive, with surgery for the malformations, special education and attention to hearing loss. About eighty patients had been reported worldwide by 2003, and the exact prevalence is not known.