Hirschsprung disease type d brachydactyly
Other Names: Familial Hirschsprung's disease and type D brachydactyly
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.
NIH genetic and rare disease info[edit source]
Hirschsprung disease type d brachydactyly is a rare disease.
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