Disease Directory Spondyloepiphyseal dysplasia with metatarsal shortening
Connective Tissue

Spondyloepiphyseal dysplasia with metatarsal shortening

Type

Disease

Gene

COL2A1

About Spondyloepiphyseal dysplasia with metatarsal shortening

Spondyloepiphyseal dysplasia with metatarsal shortening is a rare disease catalogued by Orphanet (ORPHA:137678). It is associated with the COL2A1 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 Spondyloepiphyseal dysplasia with metatarsal shortening trials.

Search ClinicalTrials.gov for "Spondyloepiphyseal dysplasia with metatarsal shortening" or filter by Orphanet code ORPHA:137678 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:137678)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Spondyloepiphyseal dysplasia with metatarsal shortening trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Spondyloepiphyseal dysplasia with metatarsal shortening. Updated daily.