What Is CHARGE Syndrome? Symptoms, Causes, Diagnosis and Treatment

Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026

Quick Answer: What is CHARGE syndrome?

CHARGE syndrome is a rare genetic disorder, present in an estimated 1 in 8,500 to 10,000 newborns, caused by a mutation in the CHD7 gene. [3] It is named for its six most common features: coloboma, heart defects, choanal atresia, growth restriction, genital abnormalities and ear abnormalities. [3] Most cases arise from random mutations, and care is individualized. [3] [4]

Key takeaways

• CHARGE syndrome is a rare genetic condition affecting the eyes, ears, nose, heart, genitals, and nervous system of a child. [3]

• The name CHARGE is an acronym for the six most common features of the condition. [3]

• A mutation in the CHD7 gene causes most cases, and the majority of cases are new (de novo) mutations that do not run in families. [3]

• Every child with CHARGE syndrome has a unique collection of features; no two people are alike. [4]

• Treatment is individualized and focuses on relieving symptoms, from surgery to therapy to breathing and hearing support. [4]

• Children with mild symptoms can have a normal lifespan with lifelong, supportive treatment. [6]

What the research says

• CHD7 changes are found in most, but not all, people with a clinical CHARGE diagnosis. In a study that sequenced the CHD7 gene in 110 people with a clinical diagnosis of CHARGE syndrome, mutations were detected in 64 (58%), and 47 of those 64 (73%) were predicted to cut the protein short. Heart malformations (54 of 59 vs. 30 of 42), coloboma (55 of 62 vs. 30 of 43), and facial asymmetry (36 of 56 vs. 13 of 39) were more common in the mutation-positive group than the mutation-negative group. This was an early study with older testing methods, and NORD reports CHD7 variants in 70% to 90% of people with typical CHARGE syndrome (Lalani et al., Am J Hum Genet, 2006). [1]

• The condition is highly variable, so the gene result does not predict the picture. A review that included the authors' own cohort of 280 CHD7-positive patients concluded that CHARGE syndrome is primarily a clinical diagnosis, that CHD7 testing helps the diagnostic process, and that the phenotype cannot be predicted from the genotype (Bergman et al., J Med Genet, 2011). [2]

What Is CHARGE Syndrome?

CHARGE syndrome is a rare genetic condition that affects several parts of a child's body, including their eyes, nerves, heart, nasal passages, genitals, and ears. [3] Children diagnosed with this condition have unique facial features and a combination of symptoms that lead to a diagnosis.

It is important to note that every person with CHARGE syndrome has a unique collection of features, and no two people are alike. [4] Abnormalities in CHARGE syndrome can appear prenatally and can impact the child in many ways and for many years.

Treatment is symptomatic, meaning it focuses on alleviating the most serious and life-threatening symptoms rather than curing the underlying genetic cause. [4]

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 does not run in the family history. [3] A child can also inherit the mutated gene from one parent during conception, a pattern known as autosomal dominant inheritance. [3] When this genetic mutation occurs, it is random or sporadic, and there is nothing a parent can do before or during pregnancy to prevent the condition.

How Common Is CHARGE Syndrome?

CHARGE syndrome is rare. It affects an estimated 1 in 8,500 to 10,000 newborns across the world. [3] Other sources estimate a somewhat lower rate, between 1 in 10,000 and 1 in 15,000 live births. [4] [5]

How Does CHARGE Syndrome Affect a Child's Body?

CHARGE syndrome affects several parts of the body because the mutated gene does not give cells the instructions they need to form and function properly. Symptom severity ranges from mild to severe, and life-threatening complications can happen if a newborn's heart and internal organs did not form correctly during fetal development.

A healthcare provider will monitor a baby's growth before birth to prepare for their arrival and plan for any treatment that needs to happen immediately. This planning helps prevent life-threatening complications, especially when symptoms affect the child's heart, breathing, or feeding.

Symptoms of CHARGE Syndrome

The most common symptoms of CHARGE syndrome make up the acronym behind the name. The table below shows each letter and the feature it represents.

Many symptoms are present at birth, but a child could receive a diagnosis later in life when symptoms become apparent. [4]

Additional Symptoms

Beyond the six core features, CHARGE syndrome can include a range of other symptoms:

Facial Characteristics

Children diagnosed with CHARGE syndrome often have unique facial features. These can include a square face, broad forehead, arched eyebrows, large eyes, droopy eyelids, a small mouth and chin, and an asymmetrical (uneven) face. [6]

What Causes CHARGE Syndrome?

A genetic mutation of the CHD7 gene causes CHARGE syndrome. [3] The CHD7 gene gives cells instructions to make a protein that packages DNA into chromosomes (chromatin), much like wrapping a gift. Chromatin can adjust the size and shape of the packaged DNA through remodeling, making it tight or loose (gene expression) to meet the needs of each chromosome.

When a child has CHARGE syndrome, the CHD7 gene does not produce enough proteins to package DNA according to the instructions, which causes the symptoms of the condition. [3]

Some people diagnosed with CHARGE syndrome, roughly 10% to 30% of those with typical features, do not have a detectable CHD7 mutation, and a few have a change in another gene. [3] [4] Studies are ongoing to learn more about these rare causes. Because of this, genetic consultation is very important.

Can CHARGE Syndrome Be Inherited?

CHARGE syndrome can be inherited, although most cases are new mutations. [3] During conception, if a child receives one copy of a mutated CHD7 gene, they will experience symptoms of the condition (autosomal dominant). [3] These genetic changes most often occur because of new mutations that do not appear in a person's family history (de novo).

How Is CHARGE Syndrome Diagnosed?

Diagnosis begins with a physical exam, where a provider examines the child to look for the major symptoms of the condition. To confirm the diagnosis, the provider will perform a genetic test, removing a small sample of blood to look for genetic changes in the CHD7 gene. [4]

To make sure the child's symptoms are not life-threatening, additional blood, urine, or imaging tests might be necessary to check the health of their internal organs. These tests are unique to each child and their specific symptoms, so it is worth talking with the provider about additional testing to make sure the child is healthy.

Treatment and Management

How Is CHARGE Syndrome Treated?

Treatment for CHARGE syndrome is unique to each child and focuses on alleviating their symptoms. The table below summarizes the main options.

A care coordinator is key to successful management and emotional support. [6] Families should ask their healthcare provider to learn more about coordinated care options.

Caring for a Child with CHARGE Syndrome at Home

A child might need extra time to grow and develop with a CHARGE syndrome diagnosis. They may be behind on milestones for their age, such as sitting up without support and talking. [6] During the first few years, keep track of the child's developmental milestones and reach out to a provider if the child is missing milestones.

The provider will track the child's growth during wellness checkups and monitor progress over the years. Staying up to date on wellness visits and screenings helps make sure the child is healthy as they grow and that they are not at risk of side effects from the diagnosis.

Life Expectancy

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. [6] For children who have mild symptoms, their lifespan could be normal with lifelong, supportive treatment. [6]

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

Can CHARGE Syndrome Be Prevented?

CHARGE syndrome cannot be prevented because it is a genetic condition. The genetic mutation that causes the condition most often happens randomly, without a history of the condition in the family, which makes it difficult to predict.

When to See a Healthcare Provider

Call a provider if a child:

• Has an infection at their surgical site

• Is not meeting developmental milestones for their age

• Is not able to eat or feed

• Has any issues with hearing or vision

• Has difficulty swallowing

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

Questions to Ask the Doctor

Good questions to bring to appointments include: 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?

Conclusion

CHARGE syndrome is a rare but well-recognized genetic condition, and a CHD7 mutation gives caregivers a clear starting point for understanding what is happening in their child's body. Because every child is different, care must be tailored, from heart surgery and feeding tubes to speech therapy and hearing aids, and a dedicated care coordinator can make a real difference in how smoothly everything comes together. Staying on top of wellness visits, tracking milestones, and knowing the warning signs that need urgent care are the most powerful tools a family has.

Want to explain health topics like this one visually? Understanding a diagnosis like this takes patience and support, and breaking complex medical information into clear visuals is one way families cope. Explore Rinnit's infographic templates to create your own easy-to-understand health explainers, care schedules, and milestone trackers for your family or community.

Frequently Asked Questions

What does CHARGE stand for in CHARGE syndrome?

CHARGE is an acronym for the six most common features of the condition: coloboma, heart defects, atresia of the choanae, restricted growth and development, genital abnormalities, and ear abnormalities.

What is CHARGE syndrome?

CHARGE syndrome is a rare genetic condition that affects several parts of a child's body, including the eyes, nerves, heart, nasal passages, genitals, and ears.

What causes CHARGE syndrome?

A genetic mutation of the CHD7 gene causes CHARGE syndrome. The gene normally gives cells instructions to make a protein that packages DNA into chromosomes, and when it does not produce enough of that protein, the symptoms of the condition result.

Is CHARGE syndrome genetic?

Yes. CHARGE syndrome is a genetic condition caused by a mutation, most often in the CHD7 gene, that can be inherited or occur as a new random mutation.

Is CHARGE syndrome inherited?

It can be, but this is uncommon. The condition is autosomal dominant, meaning one copy of the mutated CHD7 gene is enough to cause symptoms. Most cases, however, are new (de novo) mutations that do not run in family history.

How is CHARGE syndrome passed down?

If a child receives one copy of a mutated CHD7 gene during conception, they will experience symptoms of the condition.

Can CHARGE syndrome skip generations?

Because the mutation is autosomal dominant, a person who carries it typically shows symptoms. Most cases arise from new random mutations rather than inherited ones, which is why the condition often appears without family history.

What are the chances of passing CHARGE syndrome to a child?

For an individual with CHARGE syndrome, the chance of having an affected child may be as high as 50%. For parents who already have one child with CHARGE syndrome, the recurrence risk is low, about 2% to 3%, according to NORD.

How common is CHARGE syndrome?

CHARGE syndrome affects an estimated 1 in 8,500 to 10,000 newborns across the world, though some sources estimate 1 in 10,000 to 15,000.

Is CHARGE syndrome rare?

Yes. With an estimated prevalence of roughly 1 in 8,500 to 15,000 newborns, CHARGE syndrome is considered a rare genetic condition.

How is CHARGE syndrome diagnosed?

A provider performs a physical exam to look for the major symptoms, then confirms the diagnosis with a genetic blood test that looks for changes in the CHD7 gene.

Can CHARGE syndrome be detected during pregnancy?

Abnormalities in CHARGE syndrome can appear prenatally, and providers monitor a baby's growth before birth to prepare for arrival and plan immediate treatment if needed.

Can CHARGE syndrome be seen on an ultrasound?

Structural abnormalities may be visible before birth, and providers monitor fetal growth to prepare for care, though a genetic blood test after birth is used to confirm the diagnosis.

What gene causes CHARGE syndrome?

The CHD7 gene. Its mutation disrupts the protein that packages DNA into chromosomes (chromatin), leading to the symptoms of the condition.

What is the CHD7 gene?

The CHD7 gene gives cells instructions to make a protein that packages DNA into chromosomes like wrapping a gift. Chromatin can remodel the packaged DNA to be tight or loose to meet each chromosome's needs.

Can you have CHARGE syndrome without a CHD7 mutation?

Yes. Roughly 10% to 30% of people with typical CHARGE features do not have a detectable CHD7 mutation, and a few have a change in another gene instead. Studies are ongoing to learn more about these rare causes.

Can someone have CHARGE syndrome and not know it?

Because every person with CHARGE syndrome has a unique collection of features, some symptoms may become apparent later in life rather than at birth. Many symptoms are present at birth, but a diagnosis could come later when symptoms become clear.

What are the first signs of CHARGE syndrome?

Common early signs include a notch in the iris (coloboma), facial paralysis, abnormally shaped ears, congenital heart defects, and a blocked or narrow nasal passage.

What does a coloboma look like?

A coloboma is missing tissue in the eye that looks like a notch in the iris.

What are the facial features of CHARGE syndrome?

Typical facial characteristics include a square face, broad forehead, arched eyebrows, large eyes, droopy eyelids, a small mouth and chin, and an asymmetrical face.

Does CHARGE syndrome affect intelligence?

Problems with cognitive development are among the additional symptoms of CHARGE syndrome, though severity varies widely from child to child.

Do all children with CHARGE syndrome have heart defects?

Not necessarily. Heart defects are one of the six core features the acronym is built on, but every person with CHARGE syndrome has a unique collection of features and no two people are alike.

Can CHARGE syndrome cause deafness?

Yes. Ear abnormalities in CHARGE syndrome include hearing problems that can lead to deafness.

Does CHARGE syndrome cause ear abnormalities?

Yes. Ear abnormalities are one of the core features and can include ears that stick out, ears that lack lobes, and hearing problems.

Can CHARGE syndrome cause breathing problems?

Yes. Atresia of the choanae narrows or blocks the nasal passage, which causes breathing difficulties and sleep apnea.

Does CHARGE syndrome affect feeding?

Yes. Feeding and swallowing problems are common, and some children need a feeding tube to help them eat until they learn how to swallow.

Can CHARGE syndrome cause cleft palate?

Yes. Cleft lip or cleft palate is listed among the additional symptoms of the condition.

Does CHARGE syndrome cause low muscle tone?

Yes. Hypotonia, or abnormally low muscle tone, is one of the additional symptoms.

Can CHARGE syndrome affect the kidneys?

Yes. Kidney abnormalities can include extra fluid in the kidneys (hydronephrosis), backflow into the kidneys (reflux), or a small or missing kidney.

What is atresia of the choanae?

Atresia of the choanae is a narrow or blocked nasal passage that causes breathing difficulties and sleep apnea.

What kind of heart defects are associated with CHARGE syndrome?

Congenital heart defects include tetralogy of Fallot, ventricular septal defect, atrioventricular canal defect, and/or aortic arch abnormalities.

Can boys with CHARGE syndrome have genital abnormalities?

Yes. Baby boys may be born with a small penis (micropenis) and/or undescended testes (cryptorchidism).

What therapies help children with CHARGE syndrome?

Occupational, physical, and speech therapy help teach positive feeding habits and improve speech and language challenges.

Do children with CHARGE syndrome need surgery?

Surgery may be used to repair a cleft lip or palate, heart problems, or atresia, depending on each child's symptoms.

Do children with CHARGE syndrome need special education?

Supportive (special) education is one of the treatment options to help improve cognitive development.

What is the life expectancy of a child with CHARGE syndrome?

Life expectancy varies based on symptom severity. Infants with severe symptoms have a high mortality rate within the first five years of life, while children with mild symptoms could have a normal lifespan with lifelong, supportive treatment.

Can CHARGE syndrome be prevented?

No. CHARGE syndrome cannot be prevented because it is a genetic condition, and the mutation most often happens randomly without family history, making it difficult to predict.

Is CHARGE syndrome curable?

There is no cure for the underlying genetic cause. Treatment is symptomatic and focuses on alleviating symptoms, including the life-threatening ones.

Who treats CHARGE syndrome?

Care involves a team of providers across specialties, with a care coordinator who is key to successful management and emotional support.

When should I call the doctor if my child has CHARGE syndrome?

Call a provider if a child has an infection at a surgical site, is not meeting developmental milestones, cannot eat or feed, has hearing or vision issues, or has difficulty swallowing.

When should I take my child to the emergency room?

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

What questions should I ask my doctor about CHARGE syndrome?

Helpful questions include how severe the child's symptoms are, what their life expectancy is, whether they need surgery, and whether prescribed medicines have side effects.

Does CHARGE syndrome cause anxiety?

Yes. Anxiety or anxious behaviors are listed among the additional symptoms of the condition.

Can CHARGE syndrome cause scoliosis?

Yes. Scoliosis, a curvature of the spine, is one of the additional symptoms.

Why is genetic counseling important for CHARGE syndrome?

Genetic consultation is very important because rare cases involve genes other than CHD7, and counseling helps families understand inheritance, testing, and what the diagnosis means for the child and future pregnancies.

Related Reading

• Coloboma: What It Is, Why It Happens, and How It's Treated

• Congenital Heart Defects in Children: Symptoms, Causes, and Treatment

References

1. Lalani SR, Safiullah AM, Fernbach SD, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006;78(2):303-314. PMID: 16400610. https://doi.org/10.1086/500273

2. Bergman JEH, Janssen N, Hoefsloot LH, et al. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011;48(5):334-342. PMID: 21378379. https://doi.org/10.1136/jmg.2010.087106

3. MedlinePlus Genetics. CHARGE syndrome. National Library of Medicine. Last updated February 1, 2017. https://medlineplus.gov/genetics/condition/charge-syndrome/

4. National Organization for Rare Disorders. CHARGE syndrome. NORD Rare Disease Database. Last updated August 1, 2024. https://rarediseases.org/rare-diseases/charge-syndrome/

5. CHARGE Syndrome Foundation. About CHARGE. CHARGE Syndrome Foundation. Accessed October 30, 2026. https://www.chargesyndrome.org/overview/

6. Cleveland Clinic. CHARGE Syndrome. Cleveland Clinic Health Library. Last updated July 14, 2022. https://my.clevelandclinic.org/health/diseases/23472-charge-syndrome

Medical disclaimer

This article is for informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a qualified healthcare provider with any questions about a medical condition, diagnosis, or treatment plan for your child. Never disregard professional medical advice or delay seeking it because of something you have read here.