Disease Directory Cartilage-hair hypoplasia
Rare Disease

Cartilage-hair hypoplasia

Type

Disease

Gene

RMRP

About Cartilage-hair hypoplasia

Cartilage-hair hypoplasia is a rare disease catalogued by Orphanet (ORPHA:175). It is associated with the RMRP gene. 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 Cartilage-hair hypoplasia trials.

Search ClinicalTrials.gov for "Cartilage-hair hypoplasia" or filter by Orphanet code ORPHA:175 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:175)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Cartilage-hair hypoplasia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Cartilage-hair hypoplasia. Updated daily.