TP63 and split hand-foot malformation 4: Heterozygous variants in transcription factor p63 encoded by TP63 [MIM 603273] have been linked to several autosomal dominantly inherited malformation syndromes including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC [MIM 106260]), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT [MIM 103285]), ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3 [MIM 604292]), limb-mammary syndrome (LMS [MIM 603543]), split-hand/foot malformation type 4 (SHFM4 [MIM 605289]) and isolated orofacial cleft 8 (OFC8 [MIM 618149]) [1].