These include VWS/PPS and Hay-Wells syndrome,caused by mutations in TP63 (tumor protein p63) (Robin et al., 2005; Cignini et al., 2012).Interestingly, while it has been hypothesized that ABS originates from earlyectodermal defects (Hunter et al.,2011), IRF6 and TP63 are known tointeract in a regulatory loop responsible for ectodermal homeostasis that, whendisturbed, may result in either IRF6- or TP63-associated phenotypes(Moretti et al., 2010).Therefore, one may speculate that disturbances in this regulatory mechanism may alsoplay a role in at least part of the ABS cases. The gene discussed is TP63; the disease is Ankyloblepharon - ectodermal defects - cleft lip/palate.