About Rett Syndrome
The International Rett Syndrome Foundation (IRSF) offers a comprehensive overview of Rett syndrome, covering its symptoms, genetic foundation, diagnosis, and treatment pipeline. Explore clear and reliable information to help you better understand Rett syndrome.

Rett syndrome is a rare neurological disorder caused by genetic mutations that disrupt brain development, primarily affecting girls. Explore this page to learn the basics of Rett syndrome, including its causes, symptoms, and how it affects individuals and their families.
Gain a clearer understanding of Rett syndrome’s genetic basis. Learn what makes a disorder genetic, the types of mutations involved, and how changes in the MECP2 gene lead to Rett syndrome.


Learn about the diagnostic criteria for Rett syndrome and how genetic testing can confirm a clinical diagnosis. This page explores the steps involved in identifying Rett syndrome and the benefits of genetic confirmation for care and understanding.
Managing Rett syndrome requires a collaborative and personalized approach to care. This page provides essential resources, expert guidance, and tools to help families and caregivers navigate the complexities of Rett care effectively.


Learn more about the promising compounds and gene therapies being tested to treat Rett syndrome and view the most up-to-date status of their progress advancing through the research and clinical pipeline.
Though Rett syndrome primarily affects females, cases in males also occur. Understanding the unique challenges faced by males with Rett is essential to advancing overall research and providing support to every person with Rett.


Though first identified in the 1960s, Rett syndrome did not receive worldwide recognition as a distinct disorder until 1983. Here, we trace the evolution of Rett syndrome and the groundbreaking discoveries that inform today’s scientists and clinicians working to treat and cure it.
Find definitions of common terms and get answers to frequently asked questions.

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