Updated diagnostic criteria for CHARGE syndrome9
| Major and Minor Signs of CHARGE Syndromea |
| Major (the 3 Cs) |
| Coloboma |
| Choanal atresia |
| Hypoplastic semicircular Canals |
| Minor |
| Rhombencephalic dysfunction |
| Hypothalamohypophyseal dysfunction |
| Abnormal middle or external ear |
| Malformation of mediastinal organs (heart, esophagus) |
| Mental retardation |
↵a Typical CHARGE = 3 major signs OR 2 major signs +2 minor signs; partial/incomplete CHARGE = 2 major signs +1 minor sign; and atypical CHARGE = 2 major signs +0 minor signs OR 1 major sign +3 minor signs.