Conditions / Syndrome

Guttmacher syndrome

info ยท Syndrome

A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.

Signs and symptoms

  • Glanular hypospadias
  • Postaxial hand polydactyly
  • Short 2nd toe
  • Short thumb
  • Short 5th finger

Also known as: autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency-postaxial polydactyly-hypospadias syndrome