Hirschsprung disease-type D brachydactyly syndrome

Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.

Also known as: Hirschsprung disease with type d brachydactyly, Hirschsprung disease type d brachydactyly, Hirschsprung disease with type D brachydactyly, familial Hirschsprung's disease and type D brachydactyly

11 clinical trials for this condition and its sub-types.