Rett Syndrome

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.

NICHD conducts and supports research on Rett syndrome and on many disorders associated with Rett syndrome.

NICHD conducts and supports a variety of clinical research projects related to Rett syndrome.

Links to websites of groups that study or provide information about Rett syndrome.