CHARGE syndrome CHARGE联合畸形
(重定向自CHARGE Association)
CHARGE syndrome (formerly known as CHARGE association), is a syndrome caused by a genetic disorder. It was first described in 1979.
In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children. The letters stand for: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. CHARGE syndrome is the leading cause of congenital deafblindness.