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

From: Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

Major criteriaColoboma
Choanal atresia and/or cleft lip and palate
Semicircular canals agenesis/hypoplasia
Arhinencephaly and/or anosmia
Minor criteriaCranial nerves VII to XII palsy
Hypothalamo-hypophyseal dysfunction
External or middle ear anomalies
Intellectual disabilities
Typical CHARGE syndrome3 major or 2 major + 2 minor criteria
Partial CHARGE syndrome2 major + 1 minor criteria
Atypical CHARGE syndrome2 major + 0 minor or 1 major + 3 minor criteria