The classic diagnostic triad for Gorlin syndrome includes: multiple basal cell carcinomas (BCC) of the skin that develop at an early age and may number in the hundreds to thousands over a lifetime; odontogenic keratocysts of the jaw; and palmar and plantar pits. Calcification of the falx cerebri (visible on skull x-ray) is present in the majority of affected individuals by age 20. Many skeletal anomalies occur in association with
the disorder, including malformations of the spine and vertebrae. Other congenital malformations are present in about 5% of affected patients, most notably cleft lip and/or palate and polydactyly. Approximately 60% of
affected individuals have a characteristic facial appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Sebaceous and dermoid cysts are common. With the exception of macrocephaly, many of these features become pronounced around puberty. In addition to the extremely high risk for skin cancer (BCC), individuals are at increased risk for pediatric medulloblastoma (5% of affected patients), cardiac fibromas (2%), and ovarian fibromas in women (20%).