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Diagnostic criteria

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.


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