The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.2 where the CHD7 gene is located. The symptoms of CHARGE syndrome vary greatly from one child to another. In addition to the CHARGE features above, most children with CHARGE syndrome have other features, including characteristic facial features: asymmetric facial nerve palsy, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the wind pipe and the food pipe). Diagnosis is based on a specific set of features (see below). The CHARGE acronym comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%) (H) = heart defects in 75-85%, especially tetralogy of Fallot (A) = atresia of the choanae (blocked nasal breathing passages) (50-60%) (R) = retardation of growth (70-80%) and development (G) = genital underdevelopment due to hypogonadotropic hypogonadism (E) = ear abnormalities and sensorineural hearing loss (>90%).
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