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Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
Features include: Phocomelia, Encephalocele, Abnormality of the genitourinary system, and Low platelet count (thrombocytopenia).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 1 | Abnormality of the genitourinary system |
Biomarker and diagnostic research for von Voss-Cherstvoy syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for von Voss-Cherstvoy syndrome.
117 publications have been identified in PubMed for von Voss-Cherstvoy syndrome. Research spans Review / Meta-Analysis (49%), Case Report / Case Series (19%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 57 | 49% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Low platelet count (thrombocytopenia) |
22 |
19% |
Laboratory research | 21 | 18% |
Disease patterns and progression | 12 | 10% |
Clinical study results | 3 | 3% |
Testing and diagnosis research | 2 | 2% |
Chen N (2026). [PMID: 41233206](https://pubmed.ncbi.nlm.nih.gov/41233206/). *J Med Genet*. [Basic Science / Preclinical]
Li J (2026). [PMID: 41556511](https://pubmed.ncbi.nlm.nih.gov/41556511/). *Clin Genet*. [Review / Meta-Analysis]
Tana C (2026). [PMID: 41980458](https://pubmed.ncbi.nlm.nih.gov/41980458/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Mittal M (2026). [PMID: 41952251](https://pubmed.ncbi.nlm.nih.gov/41952251/). *J Clin Ultrasound*. [Case Report / Case Series]
Wang Y (2025). [PMID: 41137173](https://pubmed.ncbi.nlm.nih.gov/41137173/). *Genome Med*. [Epidemiology / Natural History]
Gutiérrez-Cerrajero C (2025). [PMID: 40081487](https://pubmed.ncbi.nlm.nih.gov/40081487/). *Actas Dermosifiliogr*. [Review / Meta-Analysis]
Martin B (2025). [PMID: 40963452](https://pubmed.ncbi.nlm.nih.gov/40963452/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Yildizdal S (2025). [PMID: 39848875](https://pubmed.ncbi.nlm.nih.gov/39848875/). *J Craniomaxillofac Surg*. [Clinical Trial Publication]
Neelathi UM (2025). [PMID: 40610405](https://pubmed.ncbi.nlm.nih.gov/40610405/). *Nat Commun*. [Basic Science / Preclinical]
Lovey O (2025). [PMID: 40336237](https://pubmed.ncbi.nlm.nih.gov/40336237/). *Rev Med Suisse*. [Case Report / Case Series]
AI-curated news mentioning von Voss-Cherstvoy syndrome
Updated Apr 8, 2026
A recent case report highlights the effectiveness of ultrasonography in detecting Von Voss-Cherstvoy Syndrome, contributing to the understanding of this rare condition. The study reviews existing literature, providing insights into diagnostic approaches.