Charge Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Charge Syndrome?
A medical geneticist (a doctor who treats inherited conditions) usually leads the care of children with Charge Syndrome. A pediatrician (a children's doctor) and an ear, nose, and throat doctor often help too. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Charge Syndrome?
Charge Syndrome is a rare genetic disorder. This means a health problem caused by a gene change. It affects many areas of the body. The name CHARGE is short for the features doctors see most. It stands for coloboma (a gap in the eye), heart defects, choanal atresia (blocked nasal passages), slow growth and development, genital differences, and ear problems, including deafness.
The mix of problems is different for each person, even within the same family. It occurs in about 1 in 8,500 to 10,000 newborns. The health problems can be life-threatening in infancy.
Symptoms
Most people with this disorder have a coloboma. This is a gap or hole in one of the structures of the eye. Depending on its size and place, it can harm vision. Some people also have underdeveloped eyes. Many have nasal passages that are narrowed or blocked. This can cause difficulty breathing.
Many have problems with the cranial nerves. These nerves leave the brain and reach the head and neck. Problems can cause trouble swallowing and facial paralysis (weak face muscles). They can also cause a weak or missing sense of smell and hearing loss. Ear abnormalities are common and add to hearing problems.
Other features can include heart defects and slow growth starting in late infancy. Motor skills like sitting and walking can be delayed. Cleft lip or palate is an opening in the lip or the roof of the mouth. Hormone problems can delay puberty. Learning ability ranges from normal intelligence to major learning disabilities. Less common problems include kidney abnormalities, immune system problems, and scoliosis (a curved spine).
Causes and who gets it
Most cases come from a change in the CHD7 gene. This gene gives instructions for a protein that helps control how other genes work during development. The change follows an autosomal dominant pattern, which means one changed gene is enough to cause the disorder. Most cases are new changes, so no one else in the family has it. In rare cases, a child gets the change from an affected parent. It affects males and females in equal numbers.
How doctors diagnose it
A medical geneticist usually makes the diagnosis. The doctor looks for major features. These are coloboma, cranial nerve problems, choanal atresia, and the typical CHARGE ear. Minor features are checked too. A complete physical exam and tests look for these signs. Genetic testing can confirm the condition by finding a CHD7 change. But a small number of people do not have a CHD7 change that tests can find. If the first test is normal, more tests may be done. One is a chromosomal microarray (a test that looks for tiny chromosome changes). Another is whole exome sequencing (a test that reads all of a person's genes).
Treatment
Children with this disorder need a team of specialists. Many structural problems can be corrected with surgery. Examples are blocked nasal passages, heart defects, and cleft lip. Surgery cannot correct an eye coloboma. Glasses can help near or far sightedness. A hat and sunglasses can help with bright light. Patching with glasses can treat lazy eye. Feeding problems and speech delays may need years of therapy. Children with progressive profound hearing loss (very severe hearing loss that keeps getting worse) have done well with cochlear implants. These are devices that help the inner ear send sound signals. Sign language and spoken language can both start early. Speech therapists, physical therapists, and occupational therapists all help. Genetic counseling is recommended for families.
When to see a doctor
The health problems can be life-threatening in infancy. Call 911 if a baby has trouble breathing, since blocked nasal passages can cause difficulty breathing. In babies with severe birth defects, airway and feeding problems can make the health risks higher in the first few years, so tell your child's doctor about any trouble feeding.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can check a child's growth and development, make referrals to specialists, and follow the child over time.
Common questions
What does the name CHARGE stand for?
It stands for the most common features: coloboma of the eye, heart defects, choanal atresia, slow growth and development, genital differences, and ear problems, including deafness.
Is Charge Syndrome inherited?
Usually not. Most cases come from a new change in the CHD7 gene and are not inherited. When a CHD7 change is the cause, it follows an autosomal dominant pattern. In rare cases, a child gets the change from an affected parent.
Can the problems be treated?
Yes, many can. Many structural problems can be corrected with surgery. Therapy helps feeding and speech, and children with progressive profound hearing loss (very severe hearing loss that keeps getting worse) have done well with cochlear implants. A team of specialists is essential for care.
What is the outlook for children with Charge Syndrome?
Life expectancy depends on how severe the problems are. The health problems can be life-threatening in infancy, but many children survive and grow up well. Life expectancy for many people can be normal.
Sources
- MedlinePlus Genetics - CHARGE syndrome
- National Organization for Rare Disorders - CHARGE Syndrome
- NCBI Bookshelf GeneReviews - CHD7 Disorder
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
