Disease Directory Marshall-Smith syndrome
Rare Disease

Marshall-Smith syndrome

Type

Malformation syndrome

Gene

NFIX

About Marshall-Smith syndrome

Marshall-Smith syndrome is a rare disease catalogued by Orphanet (ORPHA:561). It is associated with the NFIX 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 Marshall-Smith syndrome trials.

Search ClinicalTrials.gov for "Marshall-Smith syndrome" or filter by Orphanet code ORPHA:561 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:561)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Marshall-Smith syndrome trials

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