Genes affected:
(1) PTCH1 (patched 1) at 9q22.32
(2) SUFU (SUFU negative regulator of hedgehog signaling) at 10q24.32
Inheritance: autosomal dominant
Major criteria:
(1) lamellar calcification of the falx
(2) multiple jaw keratocysts
(3) palmar and plantar pits
(4) multiple basal cell carcinomas
(5) first-degree relative with NBCCS
Minor criteria:
(1) medulloblastoma during childhood
(2) lymph-mesenteric or pleural cysts
(3) macrocephaly
(4) cleft lip and/or palate
(5) skeletal malformations (bifid ribs, wedge-shaped vertebrae)
(6) preaxial or postaxial polydactyly
(7) cardiac or ovarian fibromas
(8) ocular anomalies (cataract, developmental defect, pigmentary changes of retina)
Other findings:
(1) gastric polyps
(2) frontal bossing
(3) coarse facial features
(4) facial milia
