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Ehlers-Danlos syndrome, hypermobility type

Disease definition

Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

ORPHA:285

  • Synonym(s):
    • BJHS
    • Benign joint hypermobility syndrome
    • EDS III
    • Ehlers-Danlos syndrome type 3
    • Ehlers-Danlos syndrome, hypermobile type
    • HT-EDS
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: Q79.6
  • OMIM: 130020
  • UMLS: -
  • MeSH: -
  • GARD: 2081
  • MedDRA: -

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