Conditions / Genetic
split hand-foot malformation 4
info · Genetic
A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
Signs and symptoms
- Aplasia/Hypoplasia of the phalanges of the toes
- Triphalangeal thumb
- Ectrodactyly
- Split foot
- Split hand
- Aplasia/Hypoplasia involving the metacarpal bones
- Syndactyly
- Aplasia/Hypoplasia of the phalanges of the hand
- Aplasia/Hypoplasia of metatarsal bones
Also known as: SHFM4