Disease Directory Diaphragmatic hernia-short bowel-asplenia syndrome
Rare Disease

Diaphragmatic hernia-short bowel-asplenia syndrome

Type

Malformation syndrome

Gene

HLX

About Diaphragmatic hernia-short bowel-asplenia syndrome

Diaphragmatic hernia-short bowel-asplenia syndrome is a rare disease catalogued by Orphanet (ORPHA:527468). It is associated with the HLX 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 Diaphragmatic hernia-short bowel-asplenia syndrome trials.

Search ClinicalTrials.gov for "Diaphragmatic hernia-short bowel-asplenia syndrome" or filter by Orphanet code ORPHA:527468 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:527468)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Diaphragmatic hernia-short bowel-asplenia syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Diaphragmatic hernia-short bowel-asplenia syndrome. Updated daily.