The name "C.H.A.R.G.E." was a clever way (in 1981) to refer to a newly recognized cluster of features seen in a number of children. Over the years, it has become clear that C.H.A.R.G.E. is indeed a syndrome and at least one gene causing C.H.A.R.G.E. Syndrome has been discovered. The letters in C.H.A.R.G.E. stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of C.H.A.R.G.E. Syndrome, but we're not changing the name.
C.H.A.R.G.E. 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 C.H.A.R.G.E. Syndrome was reported by a group of researchers in the Netherlands. The gene is CHD7, located on the long arm of chromosome number eight. 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 C.H.A.R.G.E. tested to date. In the vast majority, the mutation was new in the child - not detected in the parents. This confirms that C.H.A.R.G.E. 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 C.H.A.R.G.E. and to determine the function of the C.H.A.R.G.E. genes in the developing fetus, babies, children and adults.
C.H.A.R.G.E. 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 C.H.A.R.G.E. Syndrome or any other similar conditions in the family. Babies with C.H.A.R.G.E. 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 C.H.A.R.G.E. 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 C.H.A.R.G.E. Better understanding will lead the way to interventions, therapies and educational strategies which can help people with C.H.A.R.G.E. Syndrome overcome many of the obstacles in their lives.