Over 500 different PTCH1 mutations have been implicated in Gorlin syndrome (i.e., basal cell carcinoma and rhabdomyosarcoma), sporadic basal cell carcinoma, holoprosencephaly, keratocystic odontogenic tumors, and ocular developmental anomalies [14]. The gene discussed is PTCH1; the disease is nevoid basal cell carcinoma syndrome.