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
Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.
Features include very common findings: Vascular dilatation, Retinal vascular malformation, Vascular skin abnormality, and Arteriovenous malformation and others; and common findings: Facial asymmetry, Visual loss, Intellectual disability, and Seizure and others. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Irritability, Intellectual disability, Seizure |
Phenotype severity distribution: 6 very common features, 8 common features.
No clinical trials have been registered for Wyburn-Mason syndrome.
13 publications have been identified in PubMed for Wyburn-Mason syndrome. Research spans Case Report / Case Series (58%), Review / Meta-Analysis (33%), and Other (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 58% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:57 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Wyburn-Mason syndrome
Ears |
2 |
Tinnitus, Hearing loss (hearing impairment) |
Eyes | 2 | Abnormal eye movements (abnormality of eye movement), Retinal vascular malformation |
Blood and immune system | 1 | Gingival bleeding |
Head and neck | 1 | Facial asymmetry |
Digestive system | 1 | Nausea and vomiting |
Heart and blood vessels | 1 | Subarachnoid hemorrhage |
Skin | 1 | Vascular skin abnormality |
4 |
33% |
Other research | 1 | 8% |
Senthamizh T (2026). [PMID: 38753939](https://pubmed.ncbi.nlm.nih.gov/38753939/). *Unknown Journal*. [Review / Meta-Analysis]
Arredondo-Cardona SD (2026). [PMID: 39666838](https://pubmed.ncbi.nlm.nih.gov/39666838/). *Retinal cases & brief reports*. [Case Report / Case Series]
Palermo M (2026). [PMID: 41704211](https://pubmed.ncbi.nlm.nih.gov/41704211/). *European journal of neurology*. [Review / Meta-Analysis]
Liu K (2026). [PMID: 41975219](https://pubmed.ncbi.nlm.nih.gov/41975219/). *Eye (Lond)*. [Case Report / Case Series]
Aghajani A (2026). [PMID: 41984570](https://pubmed.ncbi.nlm.nih.gov/41984570/). *Ophthalmic Plast Reconstr Surg*. [Case Report / Case Series]
Wang YW (2026). [PMID: 41960871](https://pubmed.ncbi.nlm.nih.gov/41960871/). *Kaohsiung J Med Sci*. [Other]
Varma S (2025). [PMID: 40591936](https://pubmed.ncbi.nlm.nih.gov/40591936/). *Retinal cases & brief reports*. [Case Report / Case Series]
Anand K (2025). [PMID: 40595336](https://pubmed.ncbi.nlm.nih.gov/40595336/). *Eye (London, England)*. [Case Report / Case Series]
Koksaldi S (2025). [PMID: 41111635](https://pubmed.ncbi.nlm.nih.gov/41111635/). *Medical hypothesis, discovery & innovation ophthalmology journal*. [Review / Meta-Analysis]
Akiyama Y (2024). [PMID: 39149014](https://pubmed.ncbi.nlm.nih.gov/39149014/). *Heliyon*. [Case Report / Case Series]