Disease Directory Coffin-Siris syndrome
Rare Disease

Coffin-Siris syndrome

Type

Malformation syndrome

Gene

ARID2, SMARCB1, SMARCA4, ARID1B, ARID1A, SMARCE1

About Coffin-Siris syndrome

Coffin-Siris syndrome is a rare disease catalogued by Orphanet (ORPHA:1465). It is associated with the ARID2, SMARCB1, SMARCA4 genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Coffin-Siris syndrome trials.

Search ClinicalTrials.gov for "Coffin-Siris syndrome" or filter by Orphanet code ORPHA:1465 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:1465)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Coffin-Siris syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Coffin-Siris syndrome. Updated daily.