Conditions / Genetic

syndactyly type 4

info ยท Genetic

A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.

Signs and symptoms

  • Triphalangeal thumb
  • Postaxial polydactyly
  • 1-5 finger cutaneous syndactyly
  • 1-5 finger complete cutaneous syndactyly
  • Supernumerary metacarpal bones
  • 2-3 toe syndactyly
  • Polydactyly
  • 6 metacarpals

Also known as: Haas type syndactyly; SDTY4; polysyndactyly, Haas type