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Summary

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include:

• Loss of speech
• Loss of hand movements such as grasping
• Compulsive movements such as hand wringing
• Balance problems
• Breathing problems
• Behavior problems
• Learning problems or intellectual disability

Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

NIH: National Institute of Child Health and Human Development

Start Here

• Rett Syndrome (Mayo Foundation for Medical Education and Research) Also in Spanish
• Rett Syndrome (National Institute of Neurological Disorders and Stroke)
• Rett Syndrome: Overview (Eunice Kennedy Shriver National Institute of Child Health and Human Development)

Symptoms

• What Are the Symptoms of Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Diagnosis and Tests

• How Do Health Care Providers Diagnose Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Treatments and Therapies

• What Are the Treatments for Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Specifics

• What Are the Types and Phases of Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Genetics

• Rett syndrome: MedlinePlus Genetics (National Library of Medicine)
• What Causes Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Clinical Trials

• ClinicalTrials.gov: Rett Syndrome (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Endocrine disorders in Rett syndrome: a systematic review of the literature.
• Article: Profile of Trofinetide in the Treatment of Rett Syndrome: Design, Development...
• Article: Associations between genotype, phenotype and behaviours measured by the Rett syndrome...
• Rett Syndrome -- see more articles

Find an Expert

• Eunice Kennedy Shriver National Institute of Child Health and Human Development Also in Spanish
• National Institute of Neurological Disorders and Stroke Also in Spanish

Patient Handouts

• Rett syndrome (Medical Encyclopedia) Also in Spanish