Last reviewed: 12 Apr 2021
Last updated: 13 Apr 2018



History and exam

Key diagnostic factors

  • family history of joint hypermobility, EDS, or genetic mutations
  • 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
  • semitransparent skin
  • thin and stretchy double fold of skin
  • atrophic scars
  • easy bruising
  • stretch marks
  • poor wound healing and/or wound dehiscence
  • significant injury
  • history of delayed onset of local anesthesia

Other diagnostic factors

  • muscle hypotonia
  • varicose veins
  • abdominal wall, inguinal, or paraumbilical hernia
  • uterine or rectal prolapse
  • orthostatic hypotension (OH)
  • orthostatic intolerance
  • postural orthostatic tachycardia syndrome (POTS)
  • neurally mediated hypotension (NMH)
  • marfanoid habitus
  • gastrointestinal (GI) manifestations
  • gynecologic manifestations
  • eye abnormalities
  • midsystolic click or late systolic murmur
  • orthostatic hypotension

Risk factors

  • family history of joint hypermobility or EDS
  • genetic mutations

Diagnostic investigations

Investigations to consider

  • tilt-table testing
  • x-ray spine
  • echocardiogram
  • gastrointestinal (GI) imaging and endoscopy

Treatment algorithm


Director, Adult Genetics

Department of Molecular & Human Genetics

Baylor College of Medicine

Chief, Section of Genetic Medicine

Michael E. Debakey Veterans Affairs Medical Center




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 reviewersVIEW ALL

Assistant Professor

Division of General Internal Medicine

Department of Medicine

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University




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




BC declares that he has no competing interests.

Professor of Pharmacological Rheumatology

University of Leeds

Chapel Allerton Hospital




HB declares that he has no competing interests.

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