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.