Disease Directory Craniosynostosis-anal anomalies-porokeratosis syndrome
Dermatological

Craniosynostosis-anal anomalies-porokeratosis syndrome

Type

Malformation syndrome

Gene

RNU12

About Craniosynostosis-anal anomalies-porokeratosis syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome is a rare disease catalogued by Orphanet (ORPHA:85199). It is associated with the RNU12 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 Craniosynostosis-anal anomalies-porokeratosis syndrome trials.

Search ClinicalTrials.gov for "Craniosynostosis-anal anomalies-porokeratosis syndrome" or filter by Orphanet code ORPHA:85199 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:85199)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Craniosynostosis-anal anomalies-porokeratosis syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Craniosynostosis-anal anomalies-porokeratosis syndrome. Updated daily.