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duodenal atresia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

duodenal atresia

MONDO:0009126

Also known as:Duodenal Atresia or Stenosisatresia of duodenumcongenital atresia of duodenum

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Overview

Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.

GeneticsAutosomal recessive

Clinical Trials2 registered · 1 recruiting

Clinical Presentation

Features include: Duodenal atresia.

Explore clinical features

Diagnosis

Biomarker and diagnostic research for duodenal atresia has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 1 recruiting. Interventions under study include medical devices and procedural interventions. Research is primarily sponsored by academic and government institutions.

172 publications have been identified in PubMed for duodenal atresia. Research spans Case Report / Case Series (34%), Epidemiology / Natural History (19%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	50	34%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:223400

Orphanet

European rare disease database

Orphanet:1203

GARD

Genetic and Rare Diseases Info Center

GARD:54

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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duodenal atresia

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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