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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
  • ICD-11: LD28.1Y
  • OMIM: 225410
  • UMLS: C2700425
  • MeSH: -
  • GARD: 2089
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

Detailed information

General public

Guidelines

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.