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Brachydactyly type A4

Disease definition

A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.

ORPHA:93394

Classification level: Disorder
  • Synonym(s):
    • Brachydactyly, Temtamy type
    • Brachymesophalangy II and V
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • OMIM: 112800
  • UMLS: C1862139
  • MeSH: -
  • GARD: 990
  • MedDRA: -

Detailed information

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