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

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