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Brachydactyly type A1

Disease definition

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

ORPHA:93388

  • Synonym(s):
    • Brachydactyly, Farabee type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • OMIM: 112500  607004  615072  616849
  • UMLS: C1862151
  • MeSH: C537088
  • GARD: 978
  • MedDRA: -

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