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
Diagnosis and Tests
- How Do Health Care Providers Diagnose Rett Syndrome? (National Institute of Child Health and Human Development) Also in Spanish
- Genetics Home Reference: CDKL5 deficiency disorder (National Library of Medicine)
- Genetics Home Reference: Rett syndrome (National Library of Medicine)
- What Causes Rett Syndrome? (National Institute of Child Health and Human Development) Also in Spanish
- ClinicalTrials.gov: Rett Syndrome (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived...
- Article: Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA...
- Article: First report of an unusual novel double mutation affecting the...
- Rett Syndrome -- see more articles
Find an Expert
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (National Institute of Child Health and Human Development) Also in Spanish
- National Institute of Neurological Disorders and Stroke Also in Spanish