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. 2022 Sep 2;19(6):1752–1771. doi: 10.1007/s13311-022-01277-w

Table 5.

Jones criteria for diagnosis of Gorlin syndrome. A diagnosis can be made when 2 major or 1 major and 2 minor criteria are fulfilled

Major criteria Minor criteria
Lamellar (sheet-like) calcification of the falx or clear evidence of calcification in an individual younger than age of 20 years Childhood medulloblastoma
Lympho-mesenteric or pleural cysts
Jaw keratocyst Macrocephaly (OFC > 97th centile)
2 or more palmar/plantar pits Cleft lip/palate
Multiple BCCs (more than five in a lifetime) or a BCC before the age of 30 years Vertebral/rib anomalies such as bifid/splayed/extra ribs or bifid vertebrae
First degree relative with Gorlin Syndrome Preaxial or postaxial polydactyly
Ovarian/cardiac fibromas
Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retinal epithelium)