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