Gorlin syndrome (GS), a well-known genetic and neoplastic disease caused by hedgehog pathway abnormality which is also called nevoid basal cell carcinoma syndrome (NBCCS) or basal cell nevus syndrome (BCNS), is an autosomal-dominant genetic disease caused primarily by patched1 (PTCH1) mutations in the Hh receptor. The gene discussed is PTCH1; the disease is Gerstmann syndrome.