Orphanet: Brachydactyly type E

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Brachydactyly type E

Disease definition

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal
  • ICD-10: Q73.8
  • OMIM: 113300  613382
  • UMLS: C0265312
  • MeSH: -
  • GARD: 987
  • MedDRA: -

Detailed information


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