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Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
Biomarker and diagnostic research for Cyprus facial-neuromusculoskeletal syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Cyprus facial-neuromusculoskeletal syndrome.
200 publications have been identified in PubMed for Cyprus facial-neuromusculoskeletal syndrome. Kisho has analyzed 150 by research type. Research spans Review / Meta-Analysis (56%), Epidemiology / Natural History (12%), and Case Report / Case Series (11%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 84 | 56% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:39 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Cyprus facial-neuromusculoskeletal syndrome
Disease patterns and progression |
18 |
12% |
Patient case studies | 17 | 11% |
Clinical study results | 12 | 8% |
Laboratory research | 10 | 7% |
Testing and diagnosis research | 5 | 3% |
Other research | 4 | 3% |
Voros C (2026). [PMID: 41596408](https://pubmed.ncbi.nlm.nih.gov/41596408/). *Int J Mol Sci*. [Review / Meta-Analysis]
Katsiaflaka A (2026). [PMID: 41868884](https://pubmed.ncbi.nlm.nih.gov/41868884/). *Ann Gastroenterol*. [Review / Meta-Analysis]
Kagiava A (2026). [PMID: 42134074](https://pubmed.ncbi.nlm.nih.gov/42134074/). *EBioMedicine*. [Review / Meta-Analysis]
Ahmed M (2026). [PMID: 41389120](https://pubmed.ncbi.nlm.nih.gov/41389120/). *Pain Ther*. [Review / Meta-Analysis]
Bakare IS (2026). [PMID: 41561654](https://pubmed.ncbi.nlm.nih.gov/41561654/). *Cureus*. [Review / Meta-Analysis]
Kutuk IS (2026). [PMID: 41680431](https://pubmed.ncbi.nlm.nih.gov/41680431/). *Sci Rep*. [Basic Science / Preclinical]
Schnell O (2026). [PMID: 42092956](https://pubmed.ncbi.nlm.nih.gov/42092956/). *Cardiovasc Diabetol*. [Review / Meta-Analysis]
Samoutis G (2026). [PMID: 41429309](https://pubmed.ncbi.nlm.nih.gov/41429309/). *Clin Nutr ESPEN*. [Clinical Trial Publication]
Wyszyńska J (2026). [PMID: 40995775](https://pubmed.ncbi.nlm.nih.gov/40995775/). *Acta Paediatr*. [Review / Meta-Analysis]
Oates TM (2026). [PMID: 41853742](https://pubmed.ncbi.nlm.nih.gov/41853742/). *Kidney Int Rep*. [Other]