History of the Name CHARGE

The name “CHARGE” 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 CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered. The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, restriction of growth and development, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of CHARGE syndrome, but we’re not changing the name.