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
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
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
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.
