/CHARGE syndrome

CHARGE syndrome

Rare Disease

MONDO:0008965

Also Known As

CHARGE associationCHARGE syndromeHall-Hittner syndromecoloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies associationcoloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) associationcoloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndromeCharge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomaliescoloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies

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).