split-hand/foot malformation 4 (SHFM4)

Pathology

• limb malformation involving the central rays of the autopod

Genetics

• associated with defects in TP63
• restricted overlap between the mutational spectra of EEC3 & SHFM4

Clinical manifestations

• presents with syndactyly, median clefts of the hands & feet, & aplasia &/or hypoplasia of the phalanges, metacarpals, & metatarsals

More general terms

• split-hand/foot malformation

Database

• OMIM: https://mirror.omim.org/entry/605289