Disease Directory Carpenter syndrome
Rare Disease

Carpenter syndrome

Type

Malformation syndrome

Gene

MEGF8, RAB23

About Carpenter syndrome

Carpenter syndrome is a rare disease catalogued by Orphanet (ORPHA:65759). It is associated with the MEGF8, RAB23 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 Carpenter syndrome trials.

Search ClinicalTrials.gov for "Carpenter syndrome" or filter by Orphanet code ORPHA:65759 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:65759)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Carpenter syndrome trials

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