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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
Biomarker and diagnostic research for diaphragmatic hernia-short bowel-asplenia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for diaphragmatic hernia-short bowel-asplenia syndrome.
201 publications have been identified in PubMed for diaphragmatic hernia-short bowel-asplenia syndrome. Kisho has analyzed 52 by research type. Research spans Review / Meta-Analysis (46%), Case Report / Case Series (13%), and Basic Science / Preclinical (12%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 24 | 46% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies |
7 |
13% |
Laboratory research | 6 | 12% |
Disease patterns and progression | 6 | 12% |
Testing and diagnosis research | 3 | 6% |
Clinical study results | 3 | 6% |
New treatment approaches | 2 | 4% |
Other research | 1 | 2% |
Lang JE (2026). [PMID: 41029982](https://pubmed.ncbi.nlm.nih.gov/41029982/). *Acta Paediatr*. [Review / Meta-Analysis]
Dres M (2026). [PMID: 40498082](https://pubmed.ncbi.nlm.nih.gov/40498082/). *Am J Respir Crit Care Med*. [Clinical Trial Publication]
Janion A (2026). [PMID: 42015722](https://pubmed.ncbi.nlm.nih.gov/42015722/). *Pol Przegl Chir*. [Review / Meta-Analysis]
Kumar A (2026). [PMID: 32119452](https://pubmed.ncbi.nlm.nih.gov/32119452/). *Unknown Journal*. [Case Report / Case Series]
Aiolfi A (2026). [PMID: 41430014](https://pubmed.ncbi.nlm.nih.gov/41430014/). *Updates Surg*. [Review / Meta-Analysis]
Buel KL DO (2026). [PMID: 41544279](https://pubmed.ncbi.nlm.nih.gov/41544279/). *Am Fam Physician*. [Review / Meta-Analysis]
Siren PM (2026). [PMID: 41957252](https://pubmed.ncbi.nlm.nih.gov/41957252/). *World J Pediatr*. [Other]
Murthy PR (2026). [PMID: 33085298](https://pubmed.ncbi.nlm.nih.gov/33085298/). *Unknown Journal*. [Epidemiology / Natural History]
Young RE (2026). [PMID: 40931319](https://pubmed.ncbi.nlm.nih.gov/40931319/). *Clin Genet*. [Epidemiology / Natural History]
Sana MK (2026). [PMID: 32644374](https://pubmed.ncbi.nlm.nih.gov/32644374/). *Unknown Journal*. [Basic Science / Preclinical]
AI-curated news mentioning diaphragmatic hernia-short bowel-asplenia syndrome
Updated Jul 15, 2026
A case report highlights a rare complication of severe delayed diaphragmatic hernia with total gastric migration following cytoreductive surgery. This finding contributes to the understanding of post-surgical complications in rare disease contexts.