TP63 and ectodermal dysplasia syndrome: Heterozygous variants in TP63 have been linked to several syndromic and isolated diseases [5, 18] with partly overlapping phenotypes and various combinations of the following features: ectodermal dysplasia (e.g., nail dysplasia, sparse hair, hypopigmentation, freckling, tooth abnormalities), split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypoplastic breasts and/or nipples, ankyloblepharon filiforme adnatum, hypospadias and cleft lip/palate [1, 2].