is a condition that affects many areas of the body. CHARGE stands for c
eart defect, a
hoanae (also known as choanal atresia), r
estricted growth and development, g
enital abnormality, and e
ar abnormality. Signs and symptoms vary among affected individuals; however, infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. It is inherited in an autosomal dominant pattern; although most cases result from new mutations in the gene and occur in people with no history of the condition in their family. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.