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Brachydactyly type A1

Disease definition

A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.

ORPHA:93388

Classification level: Disorder
  • 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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