Diagnostic criteria of CHARGE syndrome according to Blake et al15
| Criteria | |
| Major | |
| Coloboma | Coloboma of iris, retina, choroid, disk; microphthalmia |
| Choanal atresia | Unilateral/bilateral, membranous/bony, stenosis/atresia |
| Characteristic ear abnormalities | External ear (loop or cup-shaped), middle ear (ossicular malformations, chronic serous otitis), mixed deafness; cochlear defects |
| Cranial nerve dysfunction | I, Anosmia; VII, facial palsy (unilateral or bilateral); VIII, sensorineural deafness and vestibular problems; IX and/or X, swallowing problems |
| Minor | |
| Genital hypoplasia | Males: micropenis, cryptorchidism; |
| Females: hypoplastic labia; | |
| Both: delayed incomplete pubertal development | |
| Developmental delay | Delayed motor milestones, hypotonia, mental retardation |
| Cardiovascular malformations | All types: conotruncal defects (eg, tetralogy of Fallot), arteriovenous canal defects, and aortic arch anomalies |
| Growth deficiency | Short stature |
| Orofacial cleft | Cleft lip and/or palate |
| Tracheoesophageal fistula | Tracheoesophageal defects of all types |
| Distinctive face | Characteristic facial features |
Reprinted with permission from Clinical Pediatrics (1998;37:159–73). Copyright 1998, Sage Publications.