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Egyptian Journal of Medical Human Genetics

Table 1 Diagnostic criteria for Gorlin syndrome

From: A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Major criteria

Minor criteria

1. Multiple BCCs (> 5 in a lifetime) or one before age of 20 years old

2. Jaw keratocysts prior to 20 years of age

3. Palmar/plantar pits

4. Lamellar calcification of the falx cerebri

5. Medulloblastoma (typically desmoplastic)

6. First-degree relative with GS

1. Rib anomalies

2. Other specific skeletal malformations (vertebral anomalies, kyphoscoliosis, short fourth metacarpals, postaxial Polydactyly)

3. Macrocephaly

4. Cleft lip/palate

5. Ovarian/cardiac fibroma

6. Lymphomesenteric cysts

7. Ocular abnormalities (strabismus, hypertelorism, congenital cataracts, glaucoma, coloboma)

  1. Including updates from Bree et al. [23]
  2. BCCs Basal cell carcinomas, GS Gorlin syndrome
  3. Diagnosis of Gorlin syndrome is established with: (a) Two major criteria (b) One major and two minor criteria
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