CHARGE Syndrome

What is CHARGE syndrome?

CHARGE syndrome is a rare genetic condition that affects several parts of your child’s body, including their eyes, nerves, heart, nasal passages, genitals and ears. Children diagnosed with this condition have unique facial features and a combination of symptoms that lead to a diagnosis.

It’s important to note that every person with CHARGE syndrome has a unique collection of features and no two people are alike. Abnormalities in CHARGE syndrome can appear prenatally and can impact the child in many ways and for many years.

Who does CHARGE syndrome affect?

CHARGE syndrome is a genetic condition that can affect anyone since the majority of cases are the result of a new genetic mutation that doesn’t run in your family history. You can inherit the mutated gene from one parent (autosomal dominant) during conception. When this genetic mutation occurs, it is random or sporadic and there’s nothing that a parent can do before or during pregnancy to prevent this condition.

How common is CHARGE syndrome?

CHARGE syndrome is rare and affects an estimated 1 in 8,500 to 10,000 newborns across the world.

How does CHARGE syndrome affect my child’s body?

CHARGE syndrome affects several parts of your body because the mutated gene that causes the condition doesn’t give your cells the instructions they need to form and function properly. Symptom severity ranges from mild to severe and life-threatening complications could happen if your newborn’s heart and internal organs didn’t form correctly during fetal development.

Your provider will monitor your baby’s growth before they’re born to prepare for their arrival and plan for any treatment that needs to happen immediately to prevent life-threatening complications, especially if symptoms affect your child’s heart, breathing or feeding.

What are the symptoms of CHARGE syndrome?

The most common symptoms of CHARGE syndrome make up the acronym of the name including:

• Coloboma and cranial nerve abnormalities: Missing tissue in your eye that looks like a notch in the iris, difficulty with balance and coordination, paralysis of one side of your face, reduced sense of smell.
• Heart defects: Heart problems present at birth (congenital) include tetralogy of Fallot, ventricular septal defect, atrioventricular canal defect and/or aortic arch abnormalities.
• Atresia of the choanae: A narrow or blocked nasal passage that causes breathing difficulties and sleep apnea.
• Restriction of growth and development: Your child needs extra time to meet height and weight goals for their age, along with developmental milestones for their age.
• Genital abnormalities: Children assigned male at birth are born with a small penis (micropenis) and/or undescended testes (cryptorchidism).
• Ear abnormalities: Abnormalities include ears that stick out or lack lobes and hearing problems that lead to deafness.

Many symptoms are present at birth, but your child could receive a diagnosis later in life when symptoms become apparent.

Additional symptoms of CHARGE syndrome include:

• Feeding and swallowing problems.
• Problems with cognitive development.
• Cleft lip or cleft palate.
• Hypotonia.
• Kidney abnormalities: Extra fluid in your kidneys (hydronephrosis), backflow into your kidneys (reflux), a small or missing kidney.
• Misconnection of pathways to the stomach (esophageal atresia).
• Anxiety or anxious behaviors.
• Scoliosis.

Facial characteristics

Children diagnosed with CHARGE syndrome have unique facial features that include:

• Square face.
• Broad forehead.
• Arched eyebrows.
• Large eyes.
• Droopy eyelids.
• Small mouth and chin.
• Asymmetrical face.

What causes CHARGE syndrome?

A genetic mutation of the CHD7 gene causes CHARGE syndrome. The CHD7 gene gives your cells instructions to make a protein that packages your DNA into your chromosomes (chromatin) like wrapping a gift. Chromatin can adjust the size and shape (remodeling) of the packaged DNA to be tight or loose (expression) to meet the needs of each chromosome.

If you have CHARGE syndrome, your CHD7 gene isn’t producing enough proteins to package your DNA according to the instructions, which causes symptoms of the condition.

In rare cases, some people diagnosed with CHARGE syndrome don’t have a mutation on the CHD7 gene or they have a mutation of another gene in their DNA. Studies are ongoing to learn more about these rare causes. Genetic consultation is very important.

Can I inherit CHARGE syndrome?

Yes, CHARGE syndrome is an inherited condition. During conception, if you receive one copy of a mutated CHD7 gene, you will experience symptoms of the condition (autosomal dominant). These genetic changes most often occur because of new mutations that don’t occur in a person’s family history (de novo). A parent of two children with CHARGE, or an individual with CHARGE will have a 50% chance of having a baby with CHARGE syndrome.

How is CHARGE syndrome diagnosed?

Your child’s provider will physically examine your child to look for major symptoms of the condition. To confirm a diagnosis, your provider will perform a genetic test, where they’ll remove a small sample of blood to look for genetic changes in the CHD7 gene.

To make sure your child’s symptoms aren’t life-threatening, additional blood, urine or imaging tests might be necessary to check the health of their internal organs. These tests are unique to your child and their specific symptoms. Talk to your provider about additional testing to make sure your child is healthy.

How is CHARGE syndrome treated?

Treatment for CHARGE syndrome is unique to your child and focuses on alleviating their symptoms. Treatment options could include:

• Surgery to repair cleft lip or palate, heart problems or atresia.
• Participating in occupational, physical or speech therapy to teach your child positive feeding habits or to improve speech and language challenges.
• Adding a feeding tube to help your child eat until they learn how to swallow.
• Using a ventilator or CPAP machine to improve breathing difficulties or sleep apnea.
• Wearing hearing aids or implants to improve hearing loss.
• Enrolling in supportive education (special education) to improve cognitive development.
• Taking medicine to treat specific symptoms.

A care coordinator is key to successful management and emotional support. Ask your healthcare provider to learn more.

How do I take care of my child diagnosed with CHARGE syndrome?

Your child might need extra time to grow and develop with a CHARGE syndrome diagnosis. They may be behind on milestones for their age like sitting up without support and talking. During their first few years, keep track of your child’s developmental milestones and reach out to your provider if your child is missing milestones. Your provider will keep track of your child’s growth during wellness checkups and will monitor their progress over the years. Stay up to date on wellness visits and screenings to make sure your child is healthy as they grow and that they aren’t at risk of side effects from their diagnosis.

How can I prevent CHARGE syndrome?

You can’t prevent CHARGE syndrome because it’s a genetic condition. The genetic mutation that causes this condition most often happens randomly, without a history of the condition in your family history, which makes it difficult to predict.

What can I expect if I have CHARGE syndrome?

Early during your child’s diagnosis, your provider will run tests to make sure your child’s heart and internal organs are working so that they don’t cause life-threatening symptoms. Surgery might be necessary to correct any growth abnormalities, especially ones that affect your child’s heart. Many newborns need help swallowing, so your provider could insert a feeding tube into your child’s stomach to help them get the nutrients they need to survive until they’re able to swallow on their own. Additional treatment and support are available to meet your child’s health needs.

There is no cure for CHARGE syndrome.

What is the life expectancy for a person diagnosed with CHARGE syndrome?

The life expectancy for a newborn diagnosed with CHARGE syndrome varies based on the severity of their symptoms. Infants with severe symptoms have a high mortality rate within the first five years of life. For children who have mild symptoms, their lifespan could be normal with lifelong, supportive treatment.

If your child receives a CHARGE syndrome diagnosis, talk to your provider about your child’s symptoms and their life expectancy to help them live a happy and healthy life.

When should I see my child’s healthcare provider?

Visit your provider if your child:

• Has an infection at their surgical site.
• Isn’t meeting developmental milestones for their age.
• Isn’t able to eat or feed.
• Has any issues with hearing or vision.
• Has difficulty swallowing.

Visit the emergency room if your child has trouble breathing, color changes, severe feeding difficulty or an abnormal heart rate.

What questions should I ask my doctor?

• How severe are my child’s symptoms?
• What is my child’s life expectancy?
• Does my child need surgery?
• Are there side effects to the medicine you prescribed?

A note from Cleveland Clinic

It may be alarming to learn that your newborn has a rare genetic condition. Some parents and caregivers find support in genetic counseling to learn more about your child’s diagnosis and how you can help them thrive. Keep track of your child’s symptoms and whether or not they meet developmental milestones for their age at wellness visits. Contact your provider if you have questions or concerns about your child’s health.