Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
Biomarker and diagnostic research for rhombencephalosynapsis has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for rhombencephalosynapsis.
11 publications have been identified in PubMed for rhombencephalosynapsis. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 45% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
3 |
27% |
Disease patterns and progression | 2 | 18% |
Testing and diagnosis research | 1 | 9% |
Tortora M (2026). [PMID: 41269339](https://pubmed.ncbi.nlm.nih.gov/41269339/). *Neuroradiology*. [Review / Meta-Analysis]
Lerman-Sagie T (2025). [PMID: 40101002](https://pubmed.ncbi.nlm.nih.gov/40101002/). *Developmental medicine and child neurology*. [Review / Meta-Analysis]
Dirani FA (2025). [PMID: 40713540](https://pubmed.ncbi.nlm.nih.gov/40713540/). *BMC pediatrics*. [Case Report / Case Series]
Fisher Y (2025). [PMID: 39658320](https://pubmed.ncbi.nlm.nih.gov/39658320/). *Journal of neuropathology and experimental neurology*. [Epidemiology / Natural History]
El-Dessouky SH (2025). [PMID: 39638571](https://pubmed.ncbi.nlm.nih.gov/39638571/). *Prenatal diagnosis*. [Epidemiology / Natural History]
Kumar G K (2025). [PMID: 41036042](https://pubmed.ncbi.nlm.nih.gov/41036042/). *Surgical neurology international*. [Case Report / Case Series]
Khaladkar SM (2024). [PMID: 39184610](https://pubmed.ncbi.nlm.nih.gov/39184610/). *Cureus*. [Case Report / Case Series]
Previdi A (2024). [PMID: 39012202](https://pubmed.ncbi.nlm.nih.gov/39012202/). *Clinical genetics*. [Review / Meta-Analysis]
Schutter DJLG (2024). [PMID: 39230845](https://pubmed.ncbi.nlm.nih.gov/39230845/). *Cerebellum (London, England)*. [Case Report / Case Series]
Tiffany Cava Morden F (2024). [PMID: 39050404](https://pubmed.ncbi.nlm.nih.gov/39050404/). *Epilepsy & behavior reports*. [Case Report / Case Series]