CHARGE Syndrome

What is CHARGE?

CHARGE syndrome is an acronym for a genetic disorder that typically causes the following abnormalities: coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities. The disease is present at birth, and symptoms can persist and worsen as a person ages.

What are the symptoms of CHARGE syndrome?

In 1979, Dr. B.D. Hall first described this condition, then in 1981, the acronym CHARGE was given to children who had a cluster of features occurring together. Each letter in the name CHARGE stands for a common clinical finding in children with this condition.

  • C: Coloboma of eye. This is an opening in part of the eye and can involve the iris (colored part of the eye), retina, or disc. Microphthalmia (small eye) can also occur.
  • H: Heart defects
  • A: Choanal atresia (narrowing of the passages that go from the nose to the back of the throat).
  • R: Retarded (delayed) growth and development
  • G: Genitourinary abnormalities
  • E: Ear anomalies (short wide ear with “snipped” off outer helix and prominent
  • inner fold). Children also have hearing loss due to abnormalities of the middle and inner ear.

Other anomalies can include facial palsy (paralysis of facial nerves), brain abnormalities, cleft lip and palate, kidney abnormalities, and characteristic facial features.

ear deformities related to CHARGE syndrome

What causes CHARGE syndrome?

CHARGE is caused by a change (“mutation”) in a gene called the CHD7 gene on chromosome 8. In body cells, each person has 46 chromosomes that come in 23 pairs. One member of each chromosome pair is inherited from an individual’s mother and the other from the father. Therefore, each person has two copies of chromosome 8, one copy that is inherited from a person’s mother and the other from a person’s father. Each chromosome is divided into two parts, a short arm called the “p” arm and the long arm known as the “q” arm. Many genes make up each chromosome. The CHD7 gene is on the “q” arm of chromosome 8.

Approximately 60 to 70 percent of individuals with typical clinical features of CHARGE will have a change in the gene detected through routine testing of the CHD7. A smaller percentage of individuals with CHARGE have deletions (material missing) or duplications (additional genetic material) in the CHD7 gene which requires specialized testing. Most individuals with CHARGE do not have an affected parent. Individuals with CHARGE have a 50 percent chance of having children with the disorder.

What is the prognosis for my child with CHARGE?

With proper management, the prognosis for most children with this condition is positive. With careful monitoring and management of visual, hearing, craniofacial, and cardiac (heart) issues, these children will attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team and/or clinical genetics, these children can grow to be healthy and happy adults.


Reviewed by: Chad A Perlyn, MD

This page was last updated on: September 09, 2020 11:09 AM

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