Disease Directory Craniodiaphyseal dysplasia
Rare Disease

Craniodiaphyseal dysplasia

Type

Malformation syndrome

Gene

SOST, SP7

About Craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia is a rare disease catalogued by Orphanet (ORPHA:1513). It is associated with the SOST, SP7 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 Craniodiaphyseal dysplasia trials.

Search ClinicalTrials.gov for "Craniodiaphyseal dysplasia" or filter by Orphanet code ORPHA:1513 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:1513)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Craniodiaphyseal dysplasia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Craniodiaphyseal dysplasia. Updated daily.