GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type 3

Summary

Excerpted from the GeneReview: Hypermobile Ehlers-Danlos Syndrome
Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common.

Associated cytogenetic location

  • Location: 2q32.2

Clinical features

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Practice guidelines

  • ACMG, 2012
    Evaluation of the adolescent or adult with some features of Marfan syndrome.
  • EuroGenetest, 2010
    Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII

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