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Diagnostic criteria for CHARGE syndrome
Diagnostic CharacteristicsManifestations
Major criteria
 Ocular colobomaColoboma of the iris, retina, choroid, disc; microphthalmos
 Choanal atresia or stenosisUnilateral or bilateral, bony or membranous, atresia or stenosis
 Cranial nerve dysfunction or anomalyI, Hyposmia or anosmia
VII, Facial palsy (unilateral or bilateral)
VIII, Hypoplasia of auditory nerve
IX/X, Swallowing problems with aspiration
 CHARGE syndrome earOuter ear: short, wide ear with little or no lobe, “snipped off” helix, prominent antihelix that is often discontinuous with tragus, triangular concha, decreased cartilage; often protruding and usually asymmetric
Middle ear: ossicular malformations
Cochlea: incomplete partition
Vestibular apparatus: absent or hypoplastic semicircular canals
Minor criteria
 Genital hypoplasiaMales: micropenis, cryptorchidism
Females: hypoplastic labia
 Developmental delayDelayed milestones, hypotonia
 Cardiovascular malformationConotruncal defects (eg, tetralogy of Fallot), atrioventricular canal defects, aortic arch anomalies
 Growth deficiencyShort stature, usually postnatal with or without growth hormone deficiency
 Orofacial cleftCleft lip and/or palate
 Tracheoesophageal fistulaTracheoesophageal defects of all types
 Distinctive facial featuresSquare face with broad prominent forehead, prominent nasal bridge and columella, flat midface