Charge Syndrome---About

CHARGE SYNDROME

CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 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 the 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, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.

Continued research is needed to help us understand the medical and developmental challenges facing individuals with CHARGE. Better understanding will lead the way to interventions, therapies and educational strategies which can help people with CHARGE syndrome overcome many of the obstacles in their lives.

One of the hidden features of CHARGE syndrome is the determination and strong character these children display.

What else can look like CHARGE (differential diagnosis)?

· 22q deletion syndrome (aka VCFS, DiGeorge): can have many of the same medical features. However, the face, hands and ears look different. Special FISH test can diagnose 22q deletion

· Kabuki syndrome: can have many of the same medical and behavioral features. The eyes and fingertips are different and puberty is early in Kabuki syndrome.

· VATER/VACTERL association can result in similar medical problems. The ears, face and hand do not look like CHARGE syndrome

· Chromosome abnormalities. Some chromosome abnormalities can have features which overlap with CHARGE syndrome

· Retinoic embryopathy: exposure to Accutane during pregnancy can produce similar ears and heart defects - other features are different

· PAX2 mutations can cause colobomas, hearing loss and rare kidney problems

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, located on the long arm of chromosome #8. It is a regulatory gene which 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 fetus, 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%.