Definition
- 1 in 8,500-10,000 newborns
- Mutation in CHD7 gene (chromosome 8)
- CHARGE
o C: Coloboma/cranial nerve abnormalities
o H: Heart defects
o A: Atresia choanae (choanal atresia)
o R: Retardation of growth
o G: Genital abnormalities
o E: Ear abnormalities
C Coloboma
- Gap/hole in one of the eye structures that forms during early development
- May impair vision depending on size and location
- May have under-developed/small eyes (microphtalmia)
Management
- Supportive care, hearing implants, individualised schooling program