Disease Directory Saethre-Chotzen syndrome
Rare Disease

Saethre-Chotzen syndrome

Type

Malformation syndrome

Gene

FGFR3, FGFR2, TWIST1

About Saethre-Chotzen syndrome

Saethre-Chotzen syndrome is a rare disease catalogued by Orphanet (ORPHA:794). It is associated with the FGFR3, FGFR2, TWIST1 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 Saethre-Chotzen syndrome trials.

Search ClinicalTrials.gov for "Saethre-Chotzen syndrome" or filter by Orphanet code ORPHA:794 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:794)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Saethre-Chotzen syndrome trials

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