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Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
Features include very common findings: Ambiguous genitalia, Abnormality of the urinary system, Anal atresia, and Renal hypoplasia/aplasia and others; and common findings: Abnormality of the cardiovascular system, Spina bifida, Tracheoesophageal fistula, and Aplasia/Hypoplasia of the radius.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 2 | Abnormality of the urinary system, Renal hypoplasia/aplasia |
Biomarker and diagnostic research for sirenomelia has been reported in the published literature.
Phenotype severity distribution: 6 very common features, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for sirenomelia.
20 publications have been identified in PubMed for sirenomelia. Research spans Case Report / Case Series (80%), Review / Meta-Analysis (10%), and Diagnostic / Biomarker (5%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 16 | 80% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 12:29 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Heart and blood vessels | 1 | Abnormality of the cardiovascular system |
2 |
10% |
Testing and diagnosis research | 1 | 5% |
Disease patterns and progression | 1 | 5% |
Shao K (2026). [PMID: 41813607](https://pubmed.ncbi.nlm.nih.gov/41813607/). *J Clin Ultrasound*. [Case Report / Case Series]
Emmerson C (2026). [PMID: 42089392](https://pubmed.ncbi.nlm.nih.gov/42089392/). *Birth Defects Res*. [Epidemiology / Natural History]
Baghel J (2026). [PMID: 41186584](https://pubmed.ncbi.nlm.nih.gov/41186584/). *Trop Doct*. [Case Report / Case Series]
Pan T (2026). [PMID: 41593525](https://pubmed.ncbi.nlm.nih.gov/41593525/). *BMC Pregnancy Childbirth*. [Diagnostic / Biomarker]
Belhaj FZ (2025). [PMID: 41487417](https://pubmed.ncbi.nlm.nih.gov/41487417/). *Pan Afr Med J*. [Case Report / Case Series]
Ettore C (2025). [PMID: 40519665](https://pubmed.ncbi.nlm.nih.gov/40519665/). *Case Rep Womens Health*. [Case Report / Case Series]
Salih I (2025). [PMID: 41556023](https://pubmed.ncbi.nlm.nih.gov/41556023/). *Cureus*. [Case Report / Case Series]
Shokouhi M (2025). [PMID: 41069747](https://pubmed.ncbi.nlm.nih.gov/41069747/). *Clin Case Rep*. [Case Report / Case Series]
Omullo FP (2025). [PMID: 40881070](https://pubmed.ncbi.nlm.nih.gov/40881070/). *World J Clin Pediatr*. [Case Report / Case Series]
Arduç A (2025). [PMID: 40913756](https://pubmed.ncbi.nlm.nih.gov/40913756/). *Prenat Diagn*. [Review / Meta-Analysis]
AI-curated news mentioning sirenomelia
Updated May 1, 2026
A review of European prevalence data highlights 17 cases of sirenomelia registered in Wales, contributing to the understanding of this rare condition. This analysis may inform future research and clinical approaches to managing sirenomelia.