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What is the prognosis of Rett syndrome?
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Rett syndrome is a rare neurodevelopment disorder that affects mostly girls. Learn about the factors that influence life expectancy, such as seizures, pneumonia, malnutrition, and accidents, and how to improve survival rates.
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•Overview
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Babies with Rett syndrome usually are born after an uncomplicated pregnancy and delivery. Most infants with Rett syndrome seem to grow and behave as expected for the first six months. After that, signs and symptoms start to appear.
The most pronounced changes generally occur at 12 to 18 months of age, over a period of weeks or months. Symptoms and their severity vary greatly from child to child.
The main signs and symptoms include:
•Slowed growth. Brain growth slows after birth. Smaller than usual head size (microcephaly) is sometimes the first sign that a child has Rett syndrome. As children get older, there is delayed growth in other parts of the body.
•Loss of movement and coordination abilities. The first signs often include reduced hand control and a decreasing ability to crawl or walk. At first, this loss of abilities occurs rapidly, and then it continues more gradually. Eventually muscles become weak or stiff, with unusual movement and positioning.
•Loss of communication abilities. Children with Rett syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of language. Over time, children may gradually regain eye contact and develop nonverbal communication skills.
Signs and symptoms of Rett syndrome can be subtle in the early stages. See your child's health care provider right away if you begin to notice physical problems or changes in behavior after what appears to be typical development. Problems or changes may include:
•Slowed growth of your child's head or other parts of the body
•Decreased coordination or mobility
•Repetitive hand movements
•Decreasing eye contact or loss of interest in usual play
•Delayed language development or loss of previous language abilities
Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as several variants (atypical Rett syndrome) with milder or more-severe symptoms, occur based on several specific genetic changes (mutations).
The genetic changes that cause Rett syndrome occur randomly, usually in the MECP2 gene. Very few cases of this genetic disorder are inherited. The genetic changes appear to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.
Rett syndrome is rare. The genetic changes known to cause the disease are random, and no risk factors have been identified. In a very small number of cases, inherited factors — for instance, having close family members with Rett syndrome — may play a role.
Complications of Rett syndrome include:
•Sleep problems that cause significant sleep disruption to the person with Rett syndrome and family members.
•Difficulty eating, leading to poor nutrition and delayed growth.
•Bowel and bladder problems, such as constipation, gastroesophageal reflux disease (GERD), bowel or urinary incontinence, and gallbladder disease.
•Pain that may accompany problems such as gastrointestinal issues or bone fractures.
•Muscle, bone and joint problems.
There's no known way to prevent Rett syndrome. In most cases, the genetic changes that cause the disorder occur spontaneously. Even so, if you have a child or other family member with Rett syndrome, you may want to ask your health care provider about genetic testing and genetic counseling.
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By Mayo Clinic Staff
May 03, 2022
1.Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet. Accessed Jan. 10, 2022.
2.Rett syndrome. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/learning-and-developmental-disorders/rett-syndrome?query=rett%20syndrome. Accessed Jan. 10, 2022.
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Rett syndrome is a rare genetic disorder that affects mostly girls and causes loss of skills and abilities. Learn about the signs, stages, complications and potential treatments of this neurological and developmental disorder.
May 6, 2021 · Children with Rett syndrome appear to develop typically in the first year of life, but they lose the ability to use their hands purposefully. Other development then slows as they get older. Rett syndrome causes developmental challenges throughout childhood.
Rett syndrome is a rare genetic disorder that affects girls only and can lead to mental retardation and early death. The average life expectancy is about 24 years, but with proper care and therapy, some patients can live longer with severe disability.
While it is known that Rett syndrome shortens lifespan, not much is known about specific life expectancy rates for people with Rett syndrome. It generally depends on the age when symptoms first begin and their severity.
The incidence of Rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the Rett syndrome-associated MECP2 mutations, and partly to differences between signs caused by MECP2 mutations and those caused by Rett's. Females can live up to 40 years or more.
Dec 22, 2020 · Rett syndrome (RTT) is a rare genetic condition that affects females and causes mental and physical disabilities. The life expectancy of people with RTT varies, but it is usually shorter than average. Learn about the stages, diagnosis, and treatments of RTT.
