Clinical criteria for CHARGE syndrome

Ocular coloboma, microphthalmia

Choanal atresia or stenosis*

Characteristic external ear anomaly, middle/inner ear malformations, mixed deafness

Cranial nerve dysfunction

Cardiovascular malformations

Tracheo-esophageal defects

Genital hypoplasia or delayed pubertal development

Cleft lip and/or palate

Developmental delay

Growth retardation

Characteristic face

Typical CHARGE :

4 major criteria

OR

Ocular coloboma

Choanal atresia

Heart or esophagus malformation

Malformation of the middle or external ear

Rhombencephalic dysfunction including sensorineural deafness

Hypothalamo-hypophyseal dysfunction (gonadotropin or growth hormone deficiency)

Typical CHARGE :

3 major
OR
2 major + 2 minor

Partial CHARGE :

2 major + 1 minor

Atypical CHARGE :

2 major
OR
1 major + 3 minor