Conditions / Genetic

preaxial polydactyly II

info ยท Genetic

A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.

Signs and symptoms

  • Preaxial hand polydactyly
  • Duplication of thumb phalanx
  • Opposable triphalangeal thumb
  • Postaxial hand polydactyly
  • Duplication of phalanx of hallux
  • Preaxial foot polydactyly
  • Postaxial foot polydactyly
  • Syndactyly
  • Complete duplication of distal phalanx of the thumb

Also known as: polydactyly of a triphalangeal thumb