CHARGE Complex

CHARGE Complex

An autosomal dominant disorder typically caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) gene
Diagnosis At least 4 major features or 3 major features plus at least 3 minor features
Major features Ocular coloboma or microphthalmia, choanal atresia or stenosis, cranial nerve abnormalities, and characteristic auditory and/or auricular anomalies
Minor features Distinctive facial dysmorphology, facial clefting, tracheoesophageal fistula, congenital heart defects, genitourinary anomalies, developmental delay, and short stature
CHARGE acronym: Coloboma, Heart defects (conotruncal or septal), Atresia of nasal choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or deafness

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CHARGE complex

A disease of probable neural crest origin, diagnosed when infants have 4 of the acronym's 6 components: Coloboma, Heart defects–conotruncal or septal, Atresia of nasal choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or deafness; other findings: facial palsy, renal anomalies, cleft lip/palate