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CHARGE Association

​About

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

Causes

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

Impact​ on 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 may 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

Treatment

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.

Resources

SOURCE: CHARGE Association ( )
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