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Wyburn-Mason syndrome

Disease definition

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.

ORPHA:53719

  • Synonym(s):
    • Bonnet-Dechaume-Blanc syndrome
    • CAMS2
    • Cerebrofacial arteriovenous metameric syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Childhood, Neonatal, Infancy
  • ICD-10: Q28.2
  • OMIM: -
  • UMLS: C0265321
  • MeSH: C536752
  • GARD: 7900
  • MedDRA: 10048661

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