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Hirschsprung disease-type D brachydactyly syndrome
rareHirschsprung 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.
- Identifiers
- MONDO:0016294 OMIM:306980Orphanet:2150
- Part of
- Intestinal motility diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- familial Hirschsprung's disease and type D brachydactyly · Hirschsprung disease type d brachydactyly · Hirschsprung disease with type d brachydactyly
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