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Table 1: 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.