A rare severe X-linked neurodevelopmental disorder characterized by rapid developmental regression in infancy partial or complete loss of purposeful hand movements loss of speech gait abnormalities and stereotypic hand movements commonly associated with deceleration of head growth severe intellectual disability seizures and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases scoliosis and behavioral disorders.
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 May 2026
Newly diagnosed with
Rett syndrome?
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Advocacy Organizations
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
All India Institute of Medical Sciences ( AIIMS), New Delhi, India
Trinity of Care:Academic and Clinical
Childhood Dementia Initiative
Our vision is for sustainable global health solutions for childhood dementia. This will be achieved through the following outcomes: - Treatments and cures available for children with dementia - Access to equitable and quality care for children with dementia and their families - Childhood dementia is a global health policy priority.
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.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.