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Classical-like Ehlers-Danlos syndrome type 1

Disease definition

Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

ORPHA:230839

  • Synonym(s):
    • Classical-like EDS type 1
    • Ehlers-Danlos syndrome due to tenascin-X deficiency
    • clEDS type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Childhood, Infancy
  • ICD-10: Q79.6
  • OMIM: 606408
  • UMLS: C1848029
  • MeSH: -
  • GARD: 8507
  • MedDRA: -

Detailed information

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