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atresia of small intestine - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atresia of small intestine

MONDO:0009476

Also known as:Jejunal AtresiaJejunoileal atresiaapple peel syndrome

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Overview

Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.

GeneticsAutosomal recessive

Clinical Trials1 registered

Clinical Presentation

Features include: Jejunal atresia and Abnormal abdomen morphology.

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Diagnosis

Biomarker and diagnostic research for atresia of small intestine has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

48 publications have been identified in PubMed for atresia of small intestine. Research spans Case Report / Case Series (52%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	25	52%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:243600

Orphanet

European rare disease database

Orphanet:1201

GARD

Genetic and Rare Diseases Info Center

GARD:140

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 1 active clinical trial 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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atresia of small intestine

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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