Table 1 Diagnostic criteria for CHARGE syndrome by Verloes (2005), updated by Blake (2006) and Sanlaville (2007)

Major criteria

Coloboma

Choanal atresia and/or cleft lip and palate

Semicircular canals agenesis/hypoplasia

Arhinencephaly and/or anosmia

Minor criteria

Cranial nerves VII to XII palsy

Hypothalamo-hypophyseal dysfunction

External or middle ear anomalies

Intellectual disabilities

Typical CHARGE syndrome

3 major or 2 major + 2 minor criteria

Partial CHARGE syndrome

2 major + 1 minor criteria

Atypical CHARGE syndrome

2 major + 0 minor or 1 major + 3 minor criteria