diagnostic criteria
Last reviewed 01/2018
Criteria for the diagnosis of Gorlin-Goltz syndrome are specific. There should be two major or one major and one minor criteria fulfilled:Major Criteria:
- multiple (>2) basal cell carcinomas at any age or one basal cell carcinoma less than 30 years or > 10 basal cell naevi
- histologically proven odontogenic keratocyst or a polyostotic bone cyst
- palmar or plantar pits (3 or more)
- ectopic calcification: lamellar or early (<20 years) calcification of the falx cerebri
- family history of Gorlin-Goltz syndrome
Minor Criteria:
- congenital skeletal anomaly: bifid, fused, splayed, or missing rib, or bifid, wedged, or fused vertebra
- occipitofrontal circumference > 97th percentile, with frontal bossing
- cardiac or ovarian fibroma
- medulloblastoma
- lymphomesenteric cysts
- congenital malformation:
- cleft lip and/or palate
- polydactyly
- congenital ocular anomaly:
- cataract
- microphthalmos
- coloboma
Ref: Kimonis
VE, Goldstein AM, Pastakia B et al. Am J Med Genet (1997): 69(3): 299-308.