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Hirschsprung disease-type D brachydactyly syndrome

Disease definition

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.

ORPHA:2150

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q43.1
  • OMIM: 306980
  • UMLS: C1844017
  • MeSH: C538319
  • GARD: 2700
  • MedDRA: -
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