CHARGE (coloboma-heart disease-atresia of choanae-retarded mental development and growth-genital hypoplasia-ear abnormalities-deafness) association or syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0795791

JABL: An association of posterior choanal atresia with variable multiple abnormalities which include delayed mental and somatic development, ocular coloboma, ear abnormalities, deafness (usually associated with recurrent otitis, rather than ear anomalies), hypogenitalism, and heart defects. Many children have feeding, swallowing, and breathing difficulties and facial paralysis which are caused by multiple cranial nerve dysfunction. The syndrome occurs twice as often in girls as in boys and usually affects the right side of the body.

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