Rett syndrome

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Rett syndrome

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 Data version April 2024

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Rett syndrome?

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Advocacy Organizations

All India Institute of Medical Sciences ( AIIMS), New Delhi, India

Trinity of Care:Academic and Clinical

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.