CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by pathogenic variants (mutations) in the CHD7 gene. In most cases, the individual with CHARGE is the first person in the family affected. It can be inherited in an autosomal dominant manner.
CHARGE was originally used as an acronym for the common characteristics of the disorder: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genitourinary abnormalities, and ear malformations. The ear malformations are most common and include malformed external ears, middle ear problems, and problems with the inner ear (semicircular canals and cochlea), leading to mixed hearing loss and balance issues. Additional cranial nerve abnormalities are also common, causing facial paralysis, swallowing difficulty, and a diminished sense of smell. Gastrointestenal systems can also be adversely affected.
Nearly all individuals with CHARGE have multiple sensory deficits: changes in hearing, vision, smell, balance, and pain. These deficits lead to delayed motor and speech-language development. There is a wide range of cognitive function, from normal intelligence to significant developmental delays. Despite seemingly insurmountable obstacles, individuals with CHARGE syndrome often far surpass medical, physical, educational, and social expectations. Some of the common positive attributes of CHARGE syndrome are determination and strong character.