Disease Directory Temtamy preaxial brachydactyly syndrome
Rare Disease

Temtamy preaxial brachydactyly syndrome

Type

Malformation syndrome

Gene

CHSY1

About Temtamy preaxial brachydactyly syndrome

Temtamy preaxial brachydactyly syndrome is a rare disease catalogued by Orphanet (ORPHA:363417). It is associated with the CHSY1 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 Temtamy preaxial brachydactyly syndrome trials.

Search ClinicalTrials.gov for "Temtamy preaxial brachydactyly syndrome" or filter by Orphanet code ORPHA:363417 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:363417)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Temtamy preaxial brachydactyly syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Temtamy preaxial brachydactyly syndrome. Updated daily.