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Ehlers-Danlos syndrome
Disease definition
A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.
ORPHA:98249
Classification level: Group of disorders- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q79.6
- OMIM: -
- UMLS: C0013720
- MeSH: D004535
- GARD: 6322
- MedDRA: 10014316
Detailed information
Article for general public
Professionals
- Emergency guidelines
- Français (2017, pdf)
- Anesthesia guidelines
- English (2013, pdf)
- Deutsch (2013, pdf)
- Guidance for genetic testing
- English (2012, pdf)
Additional information