Rett Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Rett Syndrome?
A pediatric neurologist, a doctor who treats brain and nerve problems in children, usually helps confirm and treat Rett syndrome. A clinical geneticist, a doctor for inherited conditions, may also help. 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 Rett syndrome?
Rett syndrome is a nervous system disorder. It causes developmental problems in children. It mostly affects language skills and hand use. It occurs almost only in girls. It affects an estimated 1 in 9,000 to 10,000 females.
The most common form is called classic Rett syndrome. Girls with this form have 6 to 18 months of apparently normal development. Then they have severe problems with language, learning, and coordination. Early in childhood, they lose purposeful use of their hands. They begin repeated hand wringing, washing, or clapping motions. Other forms, called variant or atypical forms, can be milder or more severe.
Symptoms
An infant with Rett syndrome usually develops normally for the first 6 to 18 months. Symptoms range from mild to severe. Symptoms may include:
- Floppy arms and legs, which is often the first sign.
- Slowing head growth beginning at 5 to 6 months of age.
- Loss of purposeful hand movements, replaced by hand wringing or putting the hands in the mouth.
- Loss of social engagement and severe language problems.
- Breathing problems that may get worse with stress, usually while awake and not during sleep.
- A shaky, unsteady, or stiff walk, or walking on the toes.
- Seizures.
- Scoliosis, which is a side-to-side curve of the spine.
- Problems with learning and thinking.
- Drooling, sleep problems, and ongoing severe constipation.
- Reflux, when stomach contents flow back up.
Experts advise parents to stay calm when breathing becomes irregular, such as breath holding.
Causes and who gets it
Most Rett syndrome cases are due to a change in the MECP2 gene. This gene is on the X chromosome. The gene gives instructions for making a protein that is critical for normal brain function.
In more than 99 percent of people with Rett syndrome, no one else in the family has had it. Many cases come from new changes in the MECP2 gene. Rett syndrome most commonly affects girls, although boys are also rarely affected.
How doctors diagnose it
Doctors watch a child's signs and symptoms as the child grows. They also check the child's physical and nerve health over time. A genetic test can look for MECP2 changes. The gene change is not found in everyone with the disease, so the diagnosis is based on symptoms.
Because the symptoms are similar, it may first be diagnosed as autism or cerebral palsy. To confirm it, families should see a specialist, such as a pediatric neurologist or a clinical geneticist.
Treatment
There is no cure for Rett syndrome. In 2023, the FDA approved a medicine called trofinetide for children age two and older. Other treatments focus on specific symptoms. Medicine can help with breathing and movement problems and seizures. Care may also include:
- Help with feeding and diapering, and ways to treat constipation and reflux.
- Physical therapy for the hands, and weight-bearing exercise for scoliosis.
- Occupational therapy for daily skills, and physical or water therapy for movement.
- Spinal braces, hand and wrist splints, and nutritional support to keep weight up.
- A feeding tube if the child breathes in food.
Children should be checked often for scoliosis and heart problems. They may also need extra help with school and social support.
When to see a doctor
Contact your child's doctor if you have any concerns about your child's development. Also contact the doctor if you notice a lack of normal development with motor or language skills. Call 911 or go to the emergency room if your child is unconscious or is much less alert or responsive than usual.
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. A direct primary care doctor can listen to your concerns, help you reach a pediatric neurologist, and keep track of follow-up care.
Common questions
Is Rett syndrome inherited?
Usually not. In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Families that already have a known MECP2 change can get genetic testing to learn if they are carriers.
Can boys have Rett syndrome?
Yes, but rarely. Rett syndrome most commonly affects girls, although boys are also rarely affected.
Is there a cure for Rett syndrome?
No, there is no cure for Rett syndrome. In 2023, the FDA approved the medicine trofinetide for children age two and older. Other care focuses on treating specific symptoms.
Does Rett syndrome get worse over time?
Yes, for a while. The disease slowly gets worse until the teen years. Then symptoms may improve. For example, seizures or breathing problems tend to lessen in the late teens. Many people with Rett syndrome live into middle age and beyond.
Sources
- MedlinePlus - Rett syndrome
- National Institute of Neurological Disorders and Stroke - Rett Syndrome
- MedlinePlus Genetics - Rett syndrome
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.
