CHARGE syndrome

​​What is CHARGE syndrome?

CHARGE syndrome is a condition that occurs in one in every 10,000 births worldwide. It is a complex condition that affects many different parts of the body. Children with CHARGE syndrome have medical issues and may also have delays in their development. 

Signs and symptoms of CHARGE syndrome

The symptoms of CHARGE syndrome vary greatly from one child to the next.​ 

The name “CHARGE” is an acronym for some of the common features seen in children with the syndrome. Specifically, the features are:

  • coloboma of the eye (a hole in one part of the eye, usually the iris)
  • heart defects
  • atresia of the choanae​​ (blocked or narrowed airways between the back of the nose and the throat)
  • retarded (delayed) growth or development
  • genital or urinary abnormalities
  • ear abnormalities, for example low cub-shaped ears or deafness.

This list combines major and minor features of CHARGE syndrome. Major features are extremely common in CHARGE syndrome and rare in other conditions. Minor features are common in CHARGE syndrome and present in other conditions. The list does not include all the important features seen in CHARGE syndrome (for example facial palsy).

How CHARGE syndrome is diagnosed

A doctor knowledgeable about CHARGE syndrome will diagnose it based on a child’s features. The diagnosis is based on the presence of major and minor features.

Causes of CHARGE syndrome

About two-thirds of children with CHARGE have a mutation (change) in a gene called CHD7 on chromosome 8. In most cases, this mutation is a new change in the child, meaning that it is not found in either parent. So if a couple has a child with CHARGE syndrome, it is very unlikely that any of their future children will have CHARGE syndrome.

The cause of CHARGE syndrome in the one-third of children who do not have a CHD7 mutation is not yet known. Researchers are investigating other potential causes.

A mutation in the CHD7 gene will confirm a doctor’s diagnosis of CHARGE syndrome. However, if a child with CHARGE features is not found to have a mutation in CHD7, it does not mean that they do not have CHARGE syndrome. Rather, it suggests that the cause is not yet known.

How to treat CHARGE syndrome

Each child with CHARGE syndrome is unique and will need extra help in different ways. Children with CHARGE syndrome can lead happy and healthy lives with the right help and support.

Based on your child’s physical symptoms and needs, your doctor will involve specialists to evaluate, monitor and support your child in areas such as hearing, vision, breathing, growth and learning. Children with CHARGE syndrome often need medical and educational supports to address their specific needs right through their life.

How to learn more about CHARGE syndrome

If you have a child with CHARGE syndrome, you will likely have many questions about what to expect in the years to come. Websites such as that for the CHARGE Syndrome Foundation are a useful source of information and support. Your child’s doctor will also be able to answer questions and give you advice about where to find the information and support you need.

Key points

  • The signs and symptoms of CHARGE syndrome vary from child to child. They include problems with seeing, hearing, breathing, growing and learning.
  • CHARGE syndrome is usually caused by a mutation in the CHD7 gene on chromosome 8.
  • With the right support and medical treatment, a child with CHARGE syndrome can lead a happy and healthy life.

Reena Pabari, MD, MSc, HBSc

Rosanna Weksberg, MD, PhD, FRCPC, FCCMG, FACMG​

Cheryl Cytrynbaum, MS, CGC

6/12/2015
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CHARGE syndrome




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