CHARGE syndrome refers to a specific set of birth defects, medical problems, and developmental issues. The most distinctive birth defects are coloboma, choanal atresia and characteristic ears (external ears and small/absent semicircular canals).
Diagnosis
Diagnosis should be made by a medical geneticist. Diagnosis is based on key features, ideally with DNA testing for CHD7 mutations.
Key features:
- Coloboma
- Cranial nerve abnormalities
- Choanal atresia
- Heart defects
- Characteristic external ears
- Esophageal defects
- Small/absent semicircular canals
- Genitourinary abnormalities
- CHD7 gene mutations
Incidence
One in every 8,000-10,000 births. Every person with CHARGE has a unique set of features. There is wide variation in physical features and cognitive ability.
Cause
Mutations in the CHD7 gene on chromosome 8 are found in 80-90% of cases. There is no relationship to sex, race, nationality, religion, socio-economic status, or prenatal exposure.
Recurrence
It does not usually run in families. Recurrence risk to unaffected parents is 1-2%. If a parent has CHARGE Syndrome, the risk to a baby is 50/50.
Sensory Deficits
Most individuals with CHARGE have difficulty with hearing, vision and balance. This results in delayed motor development and communication. The educational term for combined vision and hearing deficits is “deafblind.”
Cognitive Ability and Testing
Many have decreased cognitive abilities, but 30-50% have normal intelligence. Intelligence of children with CHARGE is often underestimated due to the effects of combined hearing, vision, and balance issues. Testing, therapies and educational intervention MUST take into account hearing, vision and balance status.
Lifespan
There is an increased mortality, especially in the first two years. Although individuals with CHARGE remain medically fragile, lifespan can be normal.
Outcome
Individuals with CHARGE need medical care appropriate to their particular features. In addition, early intervention and appropriate and challenging educational and vocational programs specific to their sensory needs are imperative. Although there are many problems, children with CHARGE can survive and become healthy, happy citizens
Click here for a printable version of the CHARGE Syndrome Fact Sheet.
