CHARGE syndrome
CHARGE syndrome
Definition
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Also known as CHARGE association, CHARGE syndrome, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association, Hall-Hittner syndrome — per MONDO