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.