Disease Directory Potocki-Shaffer syndrome
Rare Disease

Potocki-Shaffer syndrome

Type

Malformation syndrome

Gene

ALX4, EXT2, PHF21A

About Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare disease catalogued by Orphanet (ORPHA:52022). It is associated with the ALX4, EXT2, PHF21A 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 Potocki-Shaffer syndrome trials.

Search ClinicalTrials.gov for "Potocki-Shaffer syndrome" or filter by Orphanet code ORPHA:52022 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:52022)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Potocki-Shaffer syndrome trials

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