What is CHARGE syndrome?
CHARGE syndrome is a genetic disorder that affects approximately 1 in 8,500 to 10,000 individuals.
CHARGE stands for:
- Coloboma
- Heart defect
- Atresia choanae
- Retarded growth and development
- Genital abnormality
- Ear abnormality
Mutations in the CHD7 gene cause more than half of all documented cases of CHARGE syndrome. CHARGE syndrome can be inherited, however most cases result from new mutations in the CHD7 gene and occur in people without a history of the disorder in their family. It is rare that an affected individual inherits the mutation from an affected parent. The extent that each individual is affected by this disorder varies, and infants often have multiple life-threatening medical conditions.
What are Symptoms or Associated Features of CHARGE Syndrome?
Some of the major characteristics of CHARGE syndrome include:
- A hole in one or both of the eyes (coloboma), which forms during early development. It can affect the individual’s vision, depending on its size and location.
- Small eyes (microphthalmia)
- Narrow nasal passages (choanal stenosis) or completely blocked nasal passage (choanal atresia)
- Cranial nerve abnormalities emerging directly from the brain and extend to various areas of the head and neck. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss.
- Middle and inner ear abnormalities
- Unusually shaped ears
Some of the minor characteristics of CHARGE syndrome include:
- Heart defects
- Slow growth beginning in late infancy
- Developmental delay
- Opening in the lip (cleft lip)
- Opening in the roof of the mouth (cleft palate)
- Hypogonadotropic hypogonadism – affecting the production of hormones that direct sexual development
- Males are often born with a small penis (micropenis) and undescended testes (cryptorchidism)
- Incomplete or delayed puberty
- Tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea
- Distinctive facial features, including a square-shaped face and facial asymmetry
- Cognitive function ranges from individuals with normal intelligence to individuals with major learning disabilities with poor communication and at times completely non-verbal (no speech)
If you have questions about speech pathology for children with CHARGE Syndrome, contact your local doctor who will arrange for you to see a speech pathologist.
