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Inherited Disorders and Birth Defects




What is CHARGE disease?


CHARGE syndrome is a genetic disorder. The name is an acronym and the letters stand for

C = coloboma - problems with the eyes - may have loss of vision; there can also be problems with some of the cranial nerves

H = heart defects

A = choanal atresia - the nasal passages are narrowed (called stenosis) or are not fully formed - called atresia

R = retarded growth and development

G = genital abnormalities - such as a small penis or the testes are not descended

E = ear abnormalities - the shape of the ear is often abnormal or there are problems with the inner ear that can cause deafness

CHARGE is most often caused by a change (mutation) in a gene called CHD7. This gene helps regulate other genes by turning them on and off. It is an autosomal dominant disorder - that means that if a person has CHARGE syndrome, her or she has a 50% chance of passing the changed (mutated) gene on to any child that person may have. If neither parent is affected with CHARGE syndrome, but they have a child affected with CHARGE syndrome - that is called a new mutation in the child. In this case, the chance of having another child that also has CHARGE is very small (about 1-2%).

Any family who has a child affected with CHARGE syndrome should talk to a genetic counselor or geneticist to discuss cause and inheritance of CHARGE. There is excellent information provided by the CHARGE Syndrome Foundation at the website listed below.

Related Resources:

CHARGE Syndrome Foundation

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University