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Dermatosparaxis Ehlers-Danlos syndrome

Disease definition

A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.

ORPHA:1901

Classification level: Disorder
  • Synonym(s):
    • Dermatosparaxis EDS
    • Ehlers-Danlos syndrome type 7C
    • Human dermatosparaxis EDS VIIC
    • dEDS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 225410
  • UMLS: C2700425
  • MeSH: -
  • GARD: 2089
  • MedDRA: -

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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.