Disease Directory Ellis Van Creveld syndrome
Rare Disease

Ellis Van Creveld syndrome

Type

Malformation syndrome

Gene

DYNC2LI1, GLI1, EVC2, EVC, PRKACA, PRKACB

About Ellis Van Creveld syndrome

Ellis Van Creveld syndrome is a rare disease catalogued by Orphanet (ORPHA:289). It is associated with the DYNC2LI1, GLI1, EVC2 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 Ellis Van Creveld syndrome trials.

Search ClinicalTrials.gov for "Ellis Van Creveld syndrome" or filter by Orphanet code ORPHA:289 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:289)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Ellis Van Creveld syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Ellis Van Creveld syndrome. Updated daily.