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