Heterozygous mutations in human TP63 are associated with a number of allelic syndromes characterized by orofacial defects, including Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate and Ankyloblepharon-Ectodermal dysplasia-Clefting [43]. The gene discussed is TP63; the disease is ectodermal dysplasia syndrome.