Brachydactyly type A4 (Temtamy type)

Brachydactyly type A4 or Temtamy type is characterised by brachymesophalangy (absent or hypoplastic middle phalanx) of the second and fifth fingers. Other less common features include club foot, clinodactyly, ulnar deviation of the second finger.

Pathology

Like other brachydactyly, type A4 is also an autosomal dominant disorder. Mutations in the homeobox-containing gene (HOXD13) can give rise to limb malformations with variable expressivity and a wide spectrum of clinical manifestations including syndactyly type V and brachydactyly type A4.

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Article information

rID: 27576
Tag: pm
Synonyms or Alternate Spellings:
  • BDA4

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