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Lymphedema-cerebral arteriovenous anomaly syndrome

Disease definition

Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.

ORPHA:86914

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent
  • ICD-10: -
  • OMIM: 152900
  • UMLS: C1835272
  • MeSH: -
  • GARD: 9217
  • MedDRA: -
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