In this study, we detected three heterozygous mutations of TP63 [c.728G>A (p.R243Q), c.955C>T (p.R319C), c.1769C>T (p.P590L)] in four patients of three Chinese pedigrees identified as having EEC or AEC, and we found some phenotypes which had not been described before. This evidence concerns the gene TP63 and exstrophy-epispadias complex.