Table 2.

Diagnostic criteria for CHARGE syndrome.

Classification
Typical: 3 major criteria or 2 major and 2 minor
Partial: 2 major and 1 minor criteria
Atypical: 2 major only or 1 major and 2 minor criteria
Major criteria
Coloboma (ocular)
Choanal atresia or stenosis
Hypoplasia or aplasia of semicircular canals
Minor criteria
Rhombencephalic dysfunction (brainstem and cranial nerve abnormalities)
Hypothalamic-pituitary dysfunction
Inner and/or outer ear malformation
Malformation of mediastinal organs (esophagus, heart)
Intellectual disability

Source: Adapted from Verloes. ²²