Whole‐exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the TP63 gene: p.His247Arg: c.740A>G (NM_003722.4) which has been reported as a pathogenic variant in association with EEC, both with and without orofacial clefting (Clements, Techanukul, Coman, Mellerio, & McGrath, 2010). This evidence concerns the gene TP63 and exstrophy-epispadias complex.