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Classical

Classical EDS (cEDS)

Inheritance
Autosomal dominant
Major criteria
  1. Skin hyperextensibility and atrophic scarring
  2. Generalized joint hypermobility (GJH)
Minor criteria
  1. Easy bruising
  2. Soft, doughy skin
  3. Skin fragility (or traumatic splitting)
  4. Molluscoid pseudotumors
  5. Subcutaneous spheroids
  6. Hernia (or history thereof)
  7. Epicanthal folds
  8. Complications of joint hypermobility (e.g., sprains, luxation/subluxation, pain, flexible flatfoot)
  9. Family history of a first degree relative who meets clinical criteria
Minimal criteria suggestive for cEDS:
–Major criterion (1): skin hyperextensibility and atrophic scarring
Plus
–Either major criterion (2): GJH
–And/or: at least three minor criteria
Confirmatory molecular testing is obligatory to reach a final diagnosis.
Resource:

Click on link below to read more diagnostic criteria for the

Classical-Like EDS (clEDS)
Cardiac-Valvular EDS (cvEDS)

The 2017 international classification of the Ehlers–Danlos syndromes

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552/full

 

Marked skin hyperextensibility with widened atrophic scars and joint hypermobility are found. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with evidence of tissue fragility including hiatal hernia, anal prolapse in childhood, and cervical insufficiency. Hernias may be a post-operative complication. Also evident are molluscoid pseudotumors frequently found over pressure points and subcutaneous spheroids which are mobile and palpable on the forearms and shins.

Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus. Recurrent subluxations are common in the shoulder, patella and temporomandibular joints. Muscle hypotonia and/or delayed gross motor development may be evident.

Abnormal electrophoretic mobility of the proa 1(V) or proa 2(V) chains of collagen type V has been detected. Inheritance: Autosomal dominant.