Synonyms: Atypical RTT | Rett syndrome variant
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills loss of acquired spoken language gait abnormalities stereotypic hand movements) a period of regression followed by recovery or stabilization and five out of eleven supportive criteria (breathing difficulties bruxism impaired sleep pattern abnormal muscle tone peripheral vasomotor disturbances scoliosis/kyphosis delayed growth small cold hands and feet inappropriate laughter or screaming spells decreased pain sensation and intense eye communication). Like classic Rett syndrome it almost exclusively affects girls while the disease course may be either milder or more severe.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Atypical Rett syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
International Rett Syndrome Foundation
To accelerate full spectrum research to cure Rett syndrome and empower families with information, knowledge and connectivity.
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
SCN2A Foundation
The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.