Diagnostic criteria for CHARGE syndrome

Diagnostic Characteristics	Manifestations
Major criteria
Ocular coloboma	Coloboma of the iris, retina, choroid, disc; microphthalmos
Choanal atresia or stenosis	Unilateral or bilateral, bony or membranous, atresia or stenosis
Cranial nerve dysfunction or anomaly	I, Hyposmia or anosmia
	VII, Facial palsy (unilateral or bilateral)
	VIII, Hypoplasia of auditory nerve
	IX/X, Swallowing problems with aspiration
CHARGE syndrome ear	Outer 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 hypoplasia	Males: micropenis, cryptorchidism
	Females: hypoplastic labia
Developmental delay	Delayed milestones, hypotonia
Cardiovascular malformation	Conotruncal defects (eg, tetralogy of Fallot), atrioventricular canal defects, aortic arch anomalies
Growth deficiency	Short stature, usually postnatal with or without growth hormone deficiency
Orofacial cleft	Cleft lip and/or palate
Tracheoesophageal fistula	Tracheoesophageal defects of all types
Distinctive facial features	Square face with broad prominent forehead, prominent nasal bridge and columella, flat midface