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CHARGE Syndrome
KEY FACTS
Terminology
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CHARGE : C oloboma, h eart anomaly, a tresia choanae, r etardation (mental & somatic development), g enital hypoplasia, e ar abnormalities
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Major signs: Coloboma, choanal atresia, semicircular canal (SCC) hypoplasia/aplasia, cranial nerve (CN) involvement
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Minor signs: Hindbrain, external/middle ear, cardiac/esophageal malformations, hypothalamo-hypophyseal dysfunction, intellectual disability
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