What is CHARGE Syndrome?

CHARGE syndrome is a genetic disorder that affects your child’s development, growth, behavior, coordination and intellect. It also affects appearance and internal organs.

What Causes CHARGE Syndrome?

CHARGE syndrome is caused by a mutation (change) in the CHD7 gene (piece of DNA). In most cases, the change happens at random. In a few families, there are more than one affected child in the family. CHARGE syndrome is not caused by anything you or your partner did.

What Are the Symptoms of CHARGE Syndrome?

The key features of CHARGE syndrome can affect your child’s body and development. Symptoms can be different for every person, but are consistent.

  • C = coloboma
  • C = cranial nerve weakness
  • C = cleft palate
  • H = heart defects
  • A = atresia (closure) of the airway (choanae)
  • R = developmental delays, growth retardation
  • G = genitalia differences (small penis)
  • E = ear differences, hearing loss

Physical symptoms

  • Reduced growth throughout life.
  • Distinctive facial appearance with distinctive ears, facial asymmetry.
  • Weak muscle tone (hypotonia)
  • Balance and coordination problems
  • Curvature of the spine (scoliosis)

Rev. 8/2020. MassGeneral Hospital for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.