Conditions / Genetic

syndactyly type 5

info ยท Genetic

A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chrom

A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1.

Signs and symptoms

  • Absent distal interphalangeal creases
  • Absent middle phalanx of the 3rd toe
  • Ulnar deviation of the 5th finger
  • Ulnar deviation of the 3rd finger
  • Ulnar deviation of the 4th finger
  • Short distal phalanx of finger
  • Ulnar deviation of the 2nd finger
  • 2-3 toe cutaneous syndactyly
  • 4-5 metacarpal synostosis
  • Camptodactyly of finger

Also known as: SDTY5; syndactyly with associated metacarpal and metatarsal fusion