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Cardiac-valvular Ehlers-Danlos syndrome

Disease definition

A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.

ORPHA:230851

Classification level: Disorder
  • Synonym(s):
    • Cardiac-valvular EDS
    • cvEDS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 225320
  • UMLS: C1857034
  • MeSH: -
  • GARD: 12613
  • MedDRA: -

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