What is CHARGE syndrome?

CHARGE syndrome is condition that occurs when different types of tissue do not develop completely. This happens very early in pregnancy, within the first 3-4 weeks. Children born with CHARGE syndrome often have multiple serious medical conditions that affect many different systems in their bodies. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. The word CHARGE is based on the major symptoms of the condition, and stands for:

  • C- Coloboma of the eye (a hole in one of the structures of the eye)
  • H- Heart defects
  • A- Atresia of the choanae (narrow or blocked nasal cavities)
  • R- Retardation of growth and/or development
  • G- Genital and/or urinary abnormalities
  • E- Ear abnormalities and deafness

What causes CHARGE syndrome?

CHARGE syndrome occurs in 1 in 8,500 to 10,000 births (1). It’s a genetic disorder, which means it’s caused by changes (mutations) in a gene(s). Genes, which are passed from parents to children, determine a person’s traits, including appearance and growth. Mutated genes can be inherited from a parent, caused by environmental factors or occur randomly. In most cases, CHARGE syndrome is caused by a random (new) mutation in a gene.

(1) National Library of Medicine’s Genetics Home Reference

How does CHARGE syndrome impact a child?

Children with CHARGE syndrome have many serious, potentially life-threatening medical challenges. Due to the range of symptoms, each child is impacted differently. Symptoms include (but are not limited to):

  • Impairment or loss of vision
  • Heart abnormalities
  • Cleft Lip and/or palate
  • Narrowing or blockage of the nasal cavities (atresia of the choanae)
  • Impaired growth and/or development
  • Genital and/or urinary abnormalities
  • Ear abnormalities and hearing loss


Can CHARGE syndrome be treated?

Due to the range and severity symptoms, each child’s treatment is unique. Our team works with our patients and their families to develop a treatment plan that address each patient’s specific needs.


CHARGE syndrome Foundation

National Library of Medicine’s Genetics Home Reference

About Face

Children’s Craniofacial Association

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