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CHARGE syndrome

Disease 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).

ORPHA:138

  • Synonym(s):
    • CHARGE association
    • Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
    • Hall-Hittner syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 214800
  • UMLS: C0265354
  • MeSH: D058747
  • GARD: 29
  • MedDRA: 10064063

Detailed information

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