![]() ![]() In more than half of all cases, genetic changes in the CHD7 gene cause CHARGE syndrome. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. Signs and symptoms vary among people with this condition however, infants often have multiple medical conditions. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. ![]() When caused by a genetic change in the CHD7 gene, it can be inherited in an autosomal dominant pattern although most cases result from new (de novo) genetic changes in the gene and occur in people with no history of the condition in their family. ![]()
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