Last reviewed: November 2017
Last updated: December  2016

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • joint hypermobility
  • joint or spine pain
  • motor delay in infancy
  • chronic pain syndrome
  • fatigue
  • recurrent joint dislocation or subluxation
  • muscle pain and/or muscle spasm
  • soft, silky skin texture
  • semi-transparent skin
  • thin and stretchy double fold of skin
  • atrophic scars
  • easy bruising
  • stretch marks
  • poor wound healing and/or wound dehiscence
  • significant injury
  • hx of delayed onset of local anaesthesia

Other diagnostic factors

  • muscle hypotonia
  • varicose veins
  • abdominal wall, inguinal, or para-umbilical hernia
  • uterine or rectal prolapse
  • orthostatic intolerance
  • postural orthostatic tachycardia syndrome (POTS)
  • marfanoid habitus
  • GI manifestations
  • gynaecological manifestations
  • eye abnormalities
  • mid-systolic click or late systolic murmur
  • orthostatic hypotension

Risk factors

  • FHx of joint hypermobility or EDS
  • genetic mutations

Diagnostic investigations

Investigations to consider

  • genetic testing
  • tilt-table testing
  • x-ray spine
  • echocardiogram
  • GI imaging and endoscopy
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

Director, Adult Genetics

Department of Molecular & Human Genetics

Baylor College of Medicine

Chief, Section of Genetic Medicine

Michael E. Debakey Veterans Affairs Medical Center

Houston

TX

Disclosures

SD declares that she has no competing interests.

Dr Shweta Dhar would like to gratefully acknowledge Dr Rodney Grahame and Dr Alan Hakim, the previous contributors to this monograph. RG and AH are authors of several references cited in this monograph.

Peer reviewers VIEW ALL

Assistant Professor

Division of General Internal Medicine

Department of Medicine

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University

Baltimore

MD

Disclosures

HPL is an author of a number of references cited in this monograph.

Research Assistant

Fund for Scientific Research

Flanders Centre for Medical Genetics

Ghent University Hospital

Ghent

Belgium

Disclosures

BC declares that he has no competing interests.

Professor of Pharmacological Rheumatology

University of Leeds

Chapel Allerton Hospital

Leeds

UK

Disclosures

HB declares that he has no competing interests.

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