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Bockenheimer syndrome

Disease definition

A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.

ORPHA:217008

Classification level: Disorder
  • Synonym(s):
    • Genuine diffuse phlebectasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Childhood, Neonatal
  • ICD-10: Q27.4
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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