Disease Directory Cardiofaciocutaneous syndrome
Rare Disease

Cardiofaciocutaneous syndrome

Type

Malformation syndrome

Gene

BRAF, KRAS, MAP2K1, MAP2K2

About Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome is a rare disease catalogued by Orphanet (ORPHA:1340). It is associated with the BRAF, KRAS, MAP2K1 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 Cardiofaciocutaneous syndrome trials.

Search ClinicalTrials.gov for "Cardiofaciocutaneous syndrome" or filter by Orphanet code ORPHA:1340 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:1340)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Cardiofaciocutaneous syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Cardiofaciocutaneous syndrome. Updated daily.