ICD Q87.0ORPHA:2896PHS

Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome is a rare neurodevelopmental condition caused by mutations in the TCF4 gene, causing intellectual disability, absent speech, characteristic facial features, and distinctive breathing abnormalities. Diagnosis has increased with molecular genetic testing. Research into TCF4 restoration strategies is emerging.

354
Articles
5
Trials
Updated
26 March 2026
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Common Questions

What is Pitt-Hopkins Syndrome?

Pitt-Hopkins syndrome is a rare neurodevelopmental condition caused by mutations in the TCF4 gene, causing intellectual disability, absent speech, characteristic facial features, and distinctive breathing abnormalities. Diagnosis has increased with molecular genetic testing. Research into TCF4 restoration strategies is emerging.

How many clinical trials are available for Pitt-Hopkins Syndrome?

RareWays currently indexes 5 clinical trials for Pitt-Hopkins Syndrome. Trial availability changes as new studies are registered — check the trials tab for current status.

Where does the research data for Pitt-Hopkins Syndrome come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.

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This information is for general awareness only.

For guidance specific to your situation, please speak with your healthcare team.