PTCH1 and nevoid basal cell carcinoma syndrome: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS; OMIM number: 109400), is a rare autosomal-dominant disorder caused by heterozygous inactivating mutations of PTCH1. Patients with Gorlin syndrome show skeletal abnormalities, craniofacial abnormalities, large body size, and tumors, including basal cell carcinomas of the skin and cerebellar medulloblastomas [76].