Table 1 Blake criteria for the diagnosis of CHARGE syndrome
From: CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation
| Major criteria | Minor criteria |
|---|---|
| • Ocular coloboma • Choanal atresia or stenosis • Cranial nerve dysfunction or anomaly • Characteristic ear (external, middle or inner ear) | • Genital hypoplasia • Developmental delay • Cardiovascular malformation • Growth deficiency • Cleft lip and/or palate • Distinctive facial features |
| Definitive diagnosis of CHARGE syndrome: • 4 major features OR • 3 Major and 3 minor features Probable/possible diagnosis of CHARGE syndrome: • 1–2 major features and several minor features | |
