This site is intended for healthcare professionals

CPD
CPD
Pro
Pro
account_circleSign in
Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

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.

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.