Oro-facial clefting is a recognized feature of NBCCS, occurring with a significantly increased incidence to that found in the general population (Lambrecht and Kreusch, 1997; Ruprecht et al., 1987), whilst mutations in PTCH1 have also been associated with isolated cleft lip and palate (Mansilla et al., 2006). Here, PTCH1 is linked to nevoid basal cell carcinoma syndrome.