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Ehlers Danlos Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Syndrome (EDS) is subdivided into several subtypes (types I-VIII) with different inheritance patterns and collagen gene mutations.  

The most common and/ or significant EDS types (I-IV and VI) are described below. 


  • Prevalence ~1/5000
  • EDS type III (hypermobility) is the most common and is usually mild
  • EDS type IV is uncommon but is a serious disorder

Clinical presentation

Patients may present with:

  • Skin: fragility, easy bruising, thin atrophic scars
  • Joints: hypermobility, premature osteoarthritis. 
  • Intestinal perforation; bladder, uterine and arterial rupture (type IV)

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Physical Signs

Classical EDS (types I, II)

  • Skin: soft, thin atrophic scars, bruising
  • Joints: hyperextensible
  • Varicose veins

Hypermobility (type III)

  • Skin: soft
  • Joints: hyperextensible, recurrent dislocations

Vascular (type IV)

  • Subcutaneous fat loss
  • Pinched nose
  • Thin lips
  • Hollowed cheeks
  • Skin thin and translucent, veins often visible
  • Limited large joint hyperextensibility

Kyphoscoliosis (type VI)

  • Skin: soft and hyperextensible
  • Joints: hypermobile
  • Muscle hypotonia
  • Scoliosis

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  • Aortic root dilatation (Types I, II 33%; type III 20%)
  • Premature osteoarthritis
  • Premature labour, post-partum haemorrhage (types I, II)
  • Optic globe rupture (type VI)

EDS type IV

  • Uterine, bowel and arterial rupture
  • Complications occur in at least 25% of individuals after 20 years of age and 80% before 40 years of age.
  • Arterial repair not always technically possible.
  • Shortened life expectancy, median 48 years.

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