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Rett Syndrome


Stephen Brian Sulkes

, MD, Golisano Children’s Hospital at Strong, University of Rochester School of Medicine and Dentistry

Last full review/revision May 2020| Content last modified May 2020
Click here for the Professional Version

Rett syndrome is a rare neurodevelopmental disorder caused by a genetic problem that occurs almost exclusively in girls and affects development after an initial 6-month period of normal development.

  • Rett syndrome is caused by a genetic mutation.

  • Symptoms include a decline in language and social skills after an initial period of normal development.

  • Diagnosis is based on a doctor's observation of the child’s early growth and development and genetic testing.

  • Treatment involves a multidisciplinary approach that is focused on the management of symptoms and educational support.

Rett syndrome is a rare neurodevelopmental and genetic disorder occurring almost only in girls. Boys are rarely affected.

Rett syndrome is caused by mutation of a gene or genes that are needed for brain development. It causes impaired social interactions, loss of language skills, and repetitive hand movements. Girls with Rett syndrome are usually born after a full-term, uneventful pregnancy and delivery. Although many symptoms resemble those of an autism spectrum disorder, including difficulties with social skills and communication, Rett syndrome is a separate disorder.

Symptoms of Rett Syndrome

Girls with Rett syndrome appear to develop normally until some time between 6 months and 18 months of age. When the disorder begins, head growth slows and language and social skills deteriorate. Typically, girls display repetitive hand motions resembling washing or wringing. Purposeful hand movements are lost, walking is impaired, and trunk movements are clumsy. Breathing problems may occur. Intellectual disability develops and is usually severe. Seizures often occur, and over time mobility may be affected. Children may develop scoliosis and often have heart problems. They may have slowed growth and tend to have difficulty maintaining weight.

Slight spontaneous improvements in social interaction may occur in late childhood and early adolescence, but the language and hand behavior problems remain.

Diagnosis of Rett Syndrome

  • Doctor's evaluation

  • Genetic testing

Doctors make the diagnosis of Rett syndrome by observing symptoms during the child’s early growth and development. Ongoing evaluation of the child’s physical and neurologic status is needed.

Genetic testing for the mutated gene and other genes is done to confirm the diagnosis.

Prognosis of Rett Syndrome

The long-term prognosis, including expected life span, is variable. However, usually children survive well into adulthood with the support of a medical team. Many factors, including how well seizures are controlled, whether the person retains the ability to walk, and nutrition, affect the prognosis.

Treatment of Rett Syndrome

  • Medical team support

  • Special education support

  • Management of symptoms

There is no cure for Rett syndrome.

The most helpful treatment of Rett syndrome is with a medical team approach that includes physical, occupational, and speech/language therapists. Most people with Rett syndrome need extensive support and specialized educational programs.

Doctors may give drugs to control seizures, help relieve breathing problems, or to help problems with movement.

Regular medical re-evaluations are needed to monitor the progression of scoliosis and to monitor heart problems.

Nutrition support may be needed to help affected children maintain their weight.

The federal Individuals with Disabilities Education Act (IDEA) requires public schools to provide free and appropriate education to children and adolescents with Rett syndrome. Education must be provided in the least restrictive, most inclusive setting possible—that is, a setting where the children have every opportunity to interact with nondisabled peers and have equal access to community resources. The Americans with Disability Act and Section 504 of the Rehabilitation Act also provide for accommodations in schools and other public settings.

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