CHARGE syndrome is thought to be caused by a mutation in the gene CHD7on chromosome #8. It occurs in 1 out of every 10,000 births and is not thought to be inherited. CHARGE syndrome affects males and females at equal rates and has been diagnosed in all ethnicities and socioeconomic backgrounds.
What are the effects of CHARGE syndrome?
While every individual is unique in how they look and act, people with CHARGE syndrome have some traits in common. They may have some or all of these characteristics, which include:
- Coloboma of the eye and possible vision loss
- Missing or decreased sense of smell, touch, pain, or balance
- Swallowing difficulties
- Short, wide ear with little or no lobe
- Hearing loss
- Heart defects
- Cleft lip or cleft palate
- Short stature
- Low muscle tone
- An exceptional ability to learn and to retain information
- A determined nature
Can CHARGE syndrome be treated?
Any medical issues that arise should be monitored closely by physicians. Children with CHARGE syndrome may require multiple surgical interventions. The most common is to treat congenital heart defects.
While there is currently no cure for CHARGE Syndrome, individuals will benefit greatly from early intervention. While developmental delays are common, involvement in physical, occupational, and speech therapies will assist many children with CHARGE syndrome in reaching their developmental potential. Some individuals with CHARGE may be diagnosed with an intellectual disability, but many will not. Children with CHARGE syndrome will benefit from special education services.
‣ VKC Resources
‣ Local and National Resources
- The Arc Tennessee
- The Arc US
- CHARGE Syndrome Foundation
- Genetic and Rare Diseases Information Center (GARD)
- Family Health Library, Junior League Family Resource Center, Monroe Carrell Jr. Children’s Hospital at Vanderbilt
- Tennessee Division of Special Education
- Tennessee’s Early Intervention System (TEIS)
[October 2013]