Disease Directory Treacher-Collins syndrome
Rare Disease

Treacher-Collins syndrome

Type

Malformation syndrome

Gene

POLR1B, TCOF1, POLR1D, POLR1C

About Treacher-Collins syndrome

Treacher-Collins syndrome is a rare disease catalogued by Orphanet (ORPHA:861). It is associated with the POLR1B, TCOF1, POLR1D 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 Treacher-Collins syndrome trials.

Search ClinicalTrials.gov for "Treacher-Collins syndrome" or filter by Orphanet code ORPHA:861 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:861)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Treacher-Collins syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Treacher-Collins syndrome. Updated daily.