Disease Directory Cornelia de Lange syndrome
Rare Disease

Cornelia de Lange syndrome

Type

Malformation syndrome

Gene

SMC1A, NIPBL, SMC3, HDAC8, RAD21, BRD4

About Cornelia de Lange syndrome

Cornelia de Lange syndrome is a rare disease catalogued by Orphanet (ORPHA:199). It is associated with the SMC1A, NIPBL, SMC3 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 Cornelia de Lange syndrome trials.

Search ClinicalTrials.gov for "Cornelia de Lange syndrome" or filter by Orphanet code ORPHA:199 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:199)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Cornelia de Lange syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Cornelia de Lange syndrome. Updated daily.