CHARGE syndrome
Autoszomális domináns · About 1 in 10,000 births.
A condition caused by variants in CHD7 that typically includes coloboma of the eye, heart defects, choanal atresia, growth and developmental delay, genital differences and ear anomalies with hearing loss.
Mit változtat a diagnózis
Diagnosis guides hearing, heart, growth and puberty (hormone) assessment.
Vizsgált gének
Más néven
CHARGE association; coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; 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; coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; Hall-Hittner syndrome
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- CHD7-related CHARGE syndrome
