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Klippel-Trénaunay syndrome

Disease definition

A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as port-wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg), more rarely other regions of the body, involving bone and/or soft tissue. The diagnosis is usually made when at least 2 of these 3 features exist. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.

ORPHA:90308

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • ICD-11: LD26.60
  • OMIM: 149000
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: 10051452

  A summary on this disease is available in

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

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.