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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: -

  A summary on this disease is available in Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008) Deutsch (1996)

Detailed information

General public

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.