Heterozygous p63 mutations in humans are associated with several autosomal recessive congenital hereditary diseases, including ankyloblepharon‐ectodermal defects–cleft lip/palate syndrome (AEC; MIM 106260), ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3; MIM 604292), and split‐hand/foot malformation type 4 (SHFM4; MIM 605289). Here, TP63 is linked to split hand-foot malformation.