Definition

A rare, inherited disorder that affects many organs and tissues in the body. People with this disorder have a very high risk of developing basal cell skin cancer during adolescence or early adulthood. They are also at risk of developing medulloblastoma (a type of brain cancer) and other types of cancer. Gorlin syndrome may also cause benign (not cancer) tumors in the jaw, heart, or ovaries. Other signs and symptoms include a large head and unusual facial features; small pits in the skin on the hands and feet; abnormalities of the spine, ribs, or skull; eye problems; and developmental problems. Gorlin syndrome is caused by a mutation (change) in the PTCH1 gene. Also called basal cell nevus syndrome, BCNS, NBCCS, and nevoid basal cell carcinoma syndrome.