Last reviewed: 27 Sep 2021
Last updated: 02 Jun 2021



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
  • history 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 hypotension (OH)
  • orthostatic intolerance
  • postural orthostatic tachycardia syndrome (POTS)
  • neurally mediated hypotension (NMH)
  • marfanoid habitus
  • gastrointestinal (GI) manifestations
  • gynaecological manifestations
  • eye abnormalities
  • mid-systolic click or late systolic murmur

Risk factors

  • family history of joint hypermobility or EDS
  • genetic mutations

Diagnostic investigations

Investigations to consider

  • full blood count
  • clotting screen
  • tilt-table testing
  • x-ray spine
  • echocardiogram
  • gastrointestinal (GI) imaging and endoscopy

Treatment algorithm



Shweta Dhar, MD, MS, FACMG

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 is on the board of directors of the American College of Medical Genetics and Genomics and is a member of the Ehlers-Danlos Society International Consortium. She has previously consulted for Acer Therapeutics and has previously held shares in PanGenomics, India.


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

Howard P. Levy, MD, PhD

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.

Bert Callewaert, MD

Research Assistant

Fund for Scientific Research

Flanders Centre for Medical Genetics

Ghent University Hospital




BC declares that he has no competing interests.

Howard Bird, MA, MD, FRCP

Professor of Pharmacological Rheumatology

University of Leeds

Chapel Allerton Hospital




HB declares that he has no competing interests.

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