Split Hand/Foot Malformation Type (S4HFM) is a TP63-related phenotype.
Chromosome: 3q28
Gene: tumor protein 63 (TP63)
Inheritance: autosomal dominant
Findings are typically present at birth.
Clinical features:
(1) median clefts of hands and feet
(2) aplasia/hypoplasia of phalanges, metacarpals and metatarsals
(3) syndactyly
Findings that exclude the diagnosis:
(1) cleft lip or palate
(2) ectodermal abnormalities
Differential diagnosis:
(1) SHFM1
(2) SHFM3
(3) SHFM6
