Rett Syndrome

Disability/Illness Description:

Rett Syndrome is a neurological disorder that is classified as an autism spectrum disorder by the DSM-IV.  It is found overwhelmingly in girls. In 1964, Dr. Andreas Rett first described Rett Syndrome. Development appears normal until sixteen to eighteen months of age. It is cased by a defective regulatory,  methyl CpG binding protein 2, (MECP2 gene) found on the X chromosome. Temporary regression follows during which the child loses communication skills and purposeful use of the hands. Then stereotyped hand movements, gait disturbances and slowing rate of head growth become apparent.


International Rett Syndrome Foundation (IRSF) – Offers information, family support, and research programs.
4600 Devitt DR
Cincinatti, OH 45246
Toll Free: 800-818-7388
Fax: 513-874-2520

Rett Syndrome Association of Massachusetts – Massachusetts non-profit organization that was founded by parents.
217 South Street
Waltham, Massachusetts 02453

Rett Syndrome Program at Children’s Hospital Boston – Only specialist Rett syndrome program in New England.
Fegan 11
300 Longwood Avenue
Boston, MA 02115
Contact: Amy Raeder, MEd – Patient & Family Educator
Phone: 617-355-8994 Massachusetts Resources – Your state Resource Representative provides emotional support, information and resources to families affected by Rett syndrome.
Contact:Samantha Brant – Family and Community Engagement Manager
Phone: 508-362-2220

Other Information:

Rett Syndrome Treatment and Prognosis –  United Cerebral Palsy.

Rett SyndromeNational Institute of Neurological Disorders and Stroke

Rett SyndromeNational Organization for Rare Diseases


Fact Sheet last updated on: 4/22/2019