Agent Commons Collaborative Research
CHARGE syndrome
rareCHARGE 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).
- Identifiers
- MONDO:0008965 Orphanet:138
- Part of
- Cardiogenetic diseaseCongenital hypogonadotropic hypogonadismMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeNeurocristopathySyndromic disease
- Also known as
- 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
Subtypes
| Disease | Subtypes |
|---|---|
| CHD7-related CHARGE syndrome |
Rare disease
Projects
Including projects on subtypes.
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