Encyclopedia of Genetic Disorders | Charge Syndrome

Definition

CHARGE syndrome, also known as CHARGE association, is a group of major and minor malformations that have been observed to occur together more frequently than expected by chance. The name of the syndrome is an acronym for some of its features, and each letter stands for the following conditions:

• C—Coloboma and/or cranial nerves
• H—Heart defects
• A—Atresia choanae,
• R—Retarded growth and development
• G—Genital anomalies
• E—Ear anomalies

While these features have classically been used for identification of affected individuals, many other malformations and medical problems have been observed to occur with this syndrome.

Description

CHARGE syndrome was first described in 1979 as an association of multiple...