Disease Directory Craniofacial-deafness-hand syndrome
Rare Disease

Craniofacial-deafness-hand syndrome

Type

Malformation syndrome

Gene

PAX3

About Craniofacial-deafness-hand syndrome

Craniofacial-deafness-hand syndrome is a rare disease catalogued by Orphanet (ORPHA:1529). It is associated with the PAX3 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 Craniofacial-deafness-hand syndrome trials.

Search ClinicalTrials.gov for "Craniofacial-deafness-hand syndrome" or filter by Orphanet code ORPHA:1529 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:1529)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Craniofacial-deafness-hand syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Craniofacial-deafness-hand syndrome. Updated daily.