CHARGE Syndrome

Overview

CHARGE syndrome is a complex genetic condition that is present at birth and affects many parts of the body. The name is an acronym describing features that were originally used to recognize it: Coloboma (a gap in part of the eye), Heart defects, Atresia of the choanae (blockage of the nasal passages), Retardation of growth and development, Genital differences, and Ear abnormalities and hearing loss.

Children with CHARGE syndrome have a wide range of possible features and severities. Most cases are caused by a change in a gene called CHD7, which plays an important role in development before birth. Because so many systems can be involved, care requires a coordinated team of specialists, and many children need ongoing medical support throughout life.

Symptoms

Features vary widely but may include:

• Eye differences: A coloboma (a gap in the iris, retina, or other parts of the eye) that can affect vision.
• Heart defects: Ranging from mild to serious.
• Nasal passage blockage: Narrowed or blocked nasal passages that can cause breathing and feeding difficulties in newborns.
• Growth and developmental delays: Slow growth and delays in reaching milestones.
• Ear and hearing differences: Unusually shaped ears and hearing loss; balance problems are common.
• Other features: Cleft lip or palate, swallowing and breathing difficulties, facial nerve weakness, and genital and urinary differences.

Newborns with breathing or feeding problems may need urgent medical care.

Causes

Most cases of CHARGE syndrome are caused by a change (mutation) in the CHD7 gene. This gene helps direct the development of many organs and tissues during early pregnancy, which is why a change in it can affect so many body systems at once.

In the large majority of cases, the gene change happens for the first time in the affected child (a new mutation) and is not inherited from a parent. Rarely, it can be passed from a parent who carries the change. Genetic counseling can help families understand the cause and any implications for future pregnancies.

Risk Factors

• Most cases result from a new, spontaneous gene change and are not inherited
• A parent who carries a CHD7 change has an increased chance of passing it on
• There are no known behaviors or exposures during pregnancy that cause CHARGE syndrome

Genetic counseling is recommended for families to understand recurrence risk.

Diagnosis

CHARGE syndrome is diagnosed based on a combination of clinical features and genetic testing:

• Clinical evaluation: Examining the eyes, ears, heart, nasal passages, growth, and other systems for characteristic features.
• Genetic testing: Testing for a change in the CHD7 gene, which confirms the diagnosis in most cases.
• Specialist assessments: Hearing and vision testing, echocardiogram for the heart, and imaging of the ears, nasal passages, and brain.

Because features overlap with other conditions, a careful evaluation helps distinguish CHARGE syndrome from similar disorders.

Treatment

There is no cure, and treatment focuses on managing each affected system and supporting development. Care typically involves a team of specialists and may include:

• Surgery: To repair heart defects, open blocked nasal passages, or correct cleft lip or palate and other structural differences.
• Feeding support: Special feeding techniques or feeding tubes when swallowing is difficult.
• Hearing and vision support: Hearing aids or implants, vision aids, and early intervention services.
• Developmental therapies: Physical, occupational, speech, and communication therapy.
• Ongoing monitoring: Regular checks of the heart, hearing, vision, growth, and hormones.

When to See a Doctor

CHARGE syndrome is usually identified in infancy, and affected children are followed by a team of specialists. Regular follow-up is important to monitor the heart, hearing, vision, growth, and development.

Seek prompt or emergency care if a child shows:

• Difficulty breathing, choking, or turning blue, especially in a newborn
• Poor feeding, persistent vomiting, or poor weight gain
• Signs of a heart problem, such as rapid breathing, sweating with feeds, or fatigue
• Fever or signs of infection, since some children are more vulnerable to illness

Related Topics

Frequently Asked Questions

References

1. National Institutes of Health (NIH), Genetic and Rare Diseases Information Center (GARD).
2. National Organization for Rare Disorders (NORD).
3. MedlinePlus, U.S. National Library of Medicine. CHARGE syndrome.
4. CHARGE Syndrome Foundation.