Pagon et al. [2] | Blake et al. [3] | Verloes [4] | Hale et al. [5] | |
---|---|---|---|---|
Major criteria | Choanal atresia Ocular coloboma | Ocular coloboma Choanal atresia or stenosis Cranial nerve anomalies Characteristic ears anomalies | Ocular Coloboma Choanal atresia Hypoplasia of the semicircular canals | Coloboma Choanal atresia or cleft pallet Abnormal external, middle, or inner ears Pathogenic CHD7 variant |
Minor criteria | Heart defect Retardationa (of growth or development) Genital anomalies Ear anomalies | Characteristic CHARGE facies Cardiovascular malformations Tracheoesophageal fistula Growth deficiency Genital hypoplasia Cleft lip or palate Developmental delay | Rhombencephalic dysfunction Hypothalamo-hypophyseal dysfunction Abnormal external or internal ear Malformation of mediastinal organs Mental retardationa | Cranial nerve dysfunction (including hearing loss) Dysphagia or feeding difficulties Structural brain anomalies Developmental delay, intellectual disability, or autism Hypothalamo-hypophyseal dysfunction, genital anomalies Heart or oesophageal malformation Renal anomalies skeletal or limb anomalies |
Occasional findings | Renal anomalies Spinal anomalies Hand anomalies Neck/shoulder anomalies | |||
Inclusion rule | Four criteria, including one major criteria | Four major criteria or three major and three minor criteria | Typical CHARGE: Three major or two major and two minor criteria Partial CHARGE: Two major and one minor criteria Atypical CHARGE: Two major but no minor or one major and two minor criteria | Two major and any minor criteria |