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Angioosteohypertrophic syndrome

Disease definition

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.

ORPHA:2346

Classification level: Group of disorders
  • Synonym(s):
    • Klippel-Trénaunay-Weber syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Childhood, Adolescent
  • ICD-10: -
  • ICD-11: LD26.60
  • OMIM: 149000  608354  608355
  • UMLS: C0022739
  • MeSH: D007715
  • GARD: 3122
  • MedDRA: -

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