- coloboma of the eye;
- heart anomaly (Tetralogy of Fallot, ASD, DORV);
- atresia choanae (failure of nasal passages to form – causes feeding difficulties);
- retardation of mental and somatic development;
- genital abnormalities eg microphallus (also hypogonadism, so delayed pubertal development in both sexes);
- ear abnormalities and/or deafness.
Note that none of the letters used in the acronym are the same as used in VACTERL.
Facial palsy, cleft palate, and dysphagia are commonly associated.
The term CHARGE should be restricted to infants with multiple malformations and choanal atresia and/or coloboma, combined with other cardinal malformations (heart, ear, and genital), for a total of at least 3 cardinal malformations. Growth retardation is not one of the cardinal features.
Mostly isolated, mutation in CHD7 gene (associated with increasing paternal age).