Table 2.

Principal clinical features associated with Gorlin Syndrome.

Clinical features	Description
Macrocephaly	Head circumference increases above 97th percentile until age 10 to 18 months and then maintains its centile
Facies features	Frontal bossing, coarse facial features, and facial milia in about 60% of individuals with PTCH1 mutation; more subtle in individuals with SUFU mutation
Jaw keratocysts	Can arise early as from five years of age, with a peak in the teenage years; usually present with painless swellings and if untreated can lead to tooth disruption and jaw fracture
Other congenital malformations	Cleft lip/palate; polydactyly; skeletal anomalies (bifid ribs, wedge-shaped vertebrae, short 4th metacarpal); various eye anomalies (strabismus, hypertelorism, cataract, orbital cyst, microphthalmia, retinal epithelium alterations)
Skin anomalies	Pits in the palm of the hand
Other anomalies	* Ectopic calcifications, frequently in the falx cerebri in more than 90% of patients by age 20 years