Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.

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ICD Q93.5ORPHA:819SMS

Smith-Magenis Syndrome

Smith-Magenis syndrome is a rare genetic condition caused by a missing piece of chromosome 17 or a change in the RAI1 gene. It typically involves intellectual disability, distinctive facial features, a disrupted sleep-wake cycle and challenging behaviours such as self-injury. Care is supportive and may include sleep management, early developmental therapies, behavioural support and regular medical review.

153
Articles
6
Trials
Updated
25 September 2026
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Common Questions

What is Smith-Magenis Syndrome?

Smith-Magenis syndrome is a rare genetic condition caused by a missing piece of chromosome 17 or a change in the RAI1 gene. It typically involves intellectual disability, distinctive facial features, a disrupted sleep-wake cycle and challenging behaviours such as self-injury. Care is supportive and may include sleep management, early developmental therapies, behavioural support and regular medical review.

How many clinical trials are available for Smith-Magenis Syndrome?

RareWays currently indexes 6 clinical trials for Smith-Magenis Syndrome. Trial availability changes as new studies are registered — check the trials tab for current status.

Where does the research data for Smith-Magenis Syndrome come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.

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