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Thursday, April 17, 2014
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.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University