CHARGE syndrome is a rare genetic disorder that affects your child’s growth and development. In this handout, you will learn about CHARGE syndrome and its causes and symptoms. You will also learn how doctors diagnose and treat CHARGE syndrome.

WHAT IS CHARGE SYNDROME?

CHARGE syndrome is a rare 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 mutation happens at random. CHARGE syndrome is not caused by anything you or your partner did.

WHAT ARE THE SYMPTOMS OF CHARGE SYNDROME?

Symptoms can be different for every person. Symptoms of CHARGE syndrome include:
  • C= Coloboma (when the iris or back of the eye have a small gap)
  • C= Cranial nerve weakness (nerves that control movements in facial structure)
  • C= Cleft lip and palate (when the roof of the mouth or lip do not fully form)
  • H= Heart defects
  • A= Atresia (closure) of the airway (choanae)
  • R= Retardation in growth or developmental delays
  • G= Genitalia differences (usually refers to small penis in males)
  • E= Ear differences or hearing loss
Other physical symptoms
  • Reduced growth throughout life
  • Distinctive facial appearance and ears (such as facial asymmetry, which means that one side of the face looks different from the other)
  • Weak muscle tone (hypotonia)
  • Balance and coordination problems
  • Curving of the spine (scoliosis)

HOW DO DOCTORS DIAGNOSE CHARGE SYNDROME?

  • Review of your child’s medical and family history
  • Physical exam
  • Genetic testing (usually with a blood test) 
  • Brain imaging with an MRI scan usually shows distinctive features
  • Heart imaging
  • Kidney imaging

HOW DO DOCTORS TREAT CHARGE SYNDROME?

There is no specific medicine for CHARGE syndrome. Every person with CHARGE syndrome has different symptoms. The care team will talk with you to make a treatment plan based on your child’s symptoms and medical needs.