What is CHARGE Syndrome?

CHARGE syndrome is a recognisable (genetic) pattern of birth defects which occurs in about one in every 9,000 to 10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family.

Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years.

Despite these seemingly insurmountable obstacles, people with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the determination and strong character these people display.

History of the name “CHARGE”

The name “CHARGE” was a clever way (in 1981) to refer to a newly recognised cluster of features seen in a number of children. Over the years, it has become clear that CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered.

The letters in CHARGE are an acronym for:

Coloboma of the eye

Heart defects

Atresia of the choanae

Restriction of growth and/or development

Genital and/or urinary abnormalities

Ear abnormalities and deafness

These features alone are no longer used in making a diagnosis of CHARGE syndrome, but we’re keeping the name! Read more about the major features and other features of CHARGE syndrome.

What causes CHARGE syndrome?

CHARGE syndrome is a genetic condition, caused by a change (mutation) in a single gene, most often CHD7. In August, 2004, the first major gene for CHARGE syndrome was reported by a group of researchers in the Netherlands. The gene is CHD7 which is located on the long arm of chromosome #8. It is a regulatory gene that plays a role in turning other genes on and off.

Changes (mutations) in this gene have been found in more than half of all children with CHARGE tested to date. In the vast majority, the mutation was new in the child – not detected in the parents. This confirms that CHARGE syndrome is a genetic condition caused by a new mutation in a dominant gene.

Further research is needed to find other genes that can cause CHARGE and to determine the function of the CHARGE genes in the developing foetus, babies, children and adults.

Can you have another child with CHARGE syndrome?

It is possible, but not likely. The empiric risk of reoccurrence is at most 1-2%. That means if you have one child with CHARGE, there is a maximum 1-2% chance of the next child also having CHARGE. Prenatal diagnosis may be available if a CHD7 mutation can be found in your affected child. Risk to children of individuals with CHARGE is probably 50%.

Read next:
Clinical diagnostic criteria
Major features
Other features