Disease Directory Schuurs-Hoeijmakers syndrome
Rare Disease

Schuurs-Hoeijmakers syndrome

Type

Malformation syndrome

Gene

PACS1

About Schuurs-Hoeijmakers syndrome

Schuurs-Hoeijmakers syndrome is a rare disease catalogued by Orphanet (ORPHA:329224). It is associated with the PACS1 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 Schuurs-Hoeijmakers syndrome trials.

Search ClinicalTrials.gov for "Schuurs-Hoeijmakers syndrome" or filter by Orphanet code ORPHA:329224 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:329224)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Schuurs-Hoeijmakers syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Schuurs-Hoeijmakers syndrome. Updated daily.