Rett syndrome is a neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and develop normally at first, but then they stop developing and even lose skills in different stages of the disease over a lifetime. The NICHD has supported research on Rett syndrome for the past 25 years and continues to do so in the hope of learning how to slow, stop, and ultimately reverse the disorder's effects.
General Information
Rett syndrome is a neurological and developmental disorder in which early growth and development appear normal at first, but then the infant stops developing and can even lose skills and abilities.
There are two main types of Rett syndrome: classic and atypical. The two types may differ by their symptoms or by the specific gene mutation.
The first symptom of Rett syndrome is usually the loss of muscle tone, called hypotonia. With hypotonia, an infant's arms and legs will appear "floppy."
Most cases of Rett syndrome are caused by a change (also called a mutation) in a single gene.
Genetic evaluation of a blood sample can identify whether a child has one of the known mutations that cause Rett syndrome.
Treatments include various forms of physical therapies and medication to slow the loss of abilities, improve or preserve movement, and encourage communication and social contact.
Research
NICHD conducts and supports research on Rett syndrome and on many disorders associated with Rett syndrome.
Find a Study
NICHD conducts and supports a variety of clinical research projects related to Rett syndrome.
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