Description

CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. Choanal atresia is a feature of the CHARGE syndrome, associated with coloboma of the eye, heart anomaly, retardation of mental, microphallus; ear abnormalities and/or deafness (Pagon et al., 1981). CHARGE syndrome is caused by heterozygous mutation in the CHD7 gene on chromosome 8q12. There is also evidence that the phenotype is caused by mutation in the semaphorin-3E gene (SEMA3E) on chromosome 7q21.

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