Monarch Disease Ontology identifier MONDO_0016294 (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.