Disease Directory Goldberg-Shprintzen megacolon syndrome
Rare Disease

Goldberg-Shprintzen megacolon syndrome

Type

Malformation syndrome

Gene

KIFBP

About Goldberg-Shprintzen megacolon syndrome

Goldberg-Shprintzen megacolon syndrome is a rare disease catalogued by Orphanet (ORPHA:66629). It is associated with the KIFBP 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 Goldberg-Shprintzen megacolon syndrome trials.

Search ClinicalTrials.gov for "Goldberg-Shprintzen megacolon syndrome" or filter by Orphanet code ORPHA:66629 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:66629)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Goldberg-Shprintzen megacolon syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Goldberg-Shprintzen megacolon syndrome. Updated daily.