Disease Directory Craniometaphyseal dysplasia
Rare Disease

Craniometaphyseal dysplasia

Type

Malformation syndrome

Gene

ANKH, GJA1

About Craniometaphyseal dysplasia

Craniometaphyseal dysplasia is a rare disease catalogued by Orphanet (ORPHA:1522). It is associated with the ANKH, GJA1 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 Craniometaphyseal dysplasia trials.

Search ClinicalTrials.gov for "Craniometaphyseal dysplasia" or filter by Orphanet code ORPHA:1522 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:1522)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Craniometaphyseal dysplasia trials

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