Ehlers-Danlos syndromes (EDS) are a group of complex, heritable connective tissue disorders (HCTD) that are characterised broadly by:^1,2

• joint hypermobility (double-jointedness) – presence of joints that can bend further than the normal range
• skin hyperextensibility – skin that can stretch beyond the normal range before returning to normal
• tissue fragility – more likely to bruise easily and have abnormal wound healing

Individuals with EDS may bruise easily, have joint dislocations, fractures and atrophic scars, and commonly experience pain, chronic fatigue and functional disability.^1-4 As connective tissues are an important part of every organ system, EDS can affect various and multiple body systems resulting in numerous other symptoms and complications, depending on the EDS subtype as well as the individual.²

There are currently 13 recognised subtypes of EDS.¹ Each EDS subtype has a different cause and distinctive set of symptoms; however, there are some overlaps in symptoms between the different subtypes. Symptoms can also vary between individuals of the same subtype.

Most EDS subtypes are caused by defects in the production or processing of collagen and other proteins that are important for the structure and function of tissues and organs such as the skin, joints, blood vessels and eyes.² These defects are due to genetic changes in specific genes that are important in connective tissues. Hypermobile EDS (hEDS) is the most common of the EDS subtypes, but its cause has not yet been established.^1,2

Below are the 13 recognised subtypes of EDS:¹

• Classical EDS (cEDS) (ORPHA:287)
• Classical-like EDS (clEDS) (ORPHA:230839, ORPHA:536532)
• Cardiac-valvular EDS (cvEDS) (ORPHA:230851)
• Vascular EDS (vEDS) (ORPHA:286)
• Hypermobile EDS (hEDS) (ORPHA:285)
• Arthrochalasia EDS (aEDS) (ORPHA:1899)
• Dermatosparaxis EDS (dEDS) (ORPHA:1901)
• Kyphoscoliotic EDS (kEDS) (ORPHA:536545)
• Brittle Cornea syndrome (BCS) (ORPHA:90354)
• Spondylodysplastic EDS (spEDS) (ORPHA:536471)
• Musculocontractural EDS (mcEDS) (ORPHA:2953)
• Myopathic EDS (mEDS) (ORPHA:536516)
• Periodontal EDS (pEDS) (ORPHA:75392)

More information about the various EDS subtypes can be found in the 2017 international classification of the Ehlers–Danlos syndromes.

There are no known synonyms for Ehlers-Danlos syndromes (EDS).

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:98249 Ehlers-Danlos syndrome

ICD-11: LD28.1 Ehlers-Danlos syndrome

There are a wide range of signs and symptoms associated with Ehlers-Danlos syndromes (EDS).^1-3 Individuals with EDS may experience many different symptoms and health issues associated with multiple body systems.² This varies between EDS subtypes as well as between individuals with the same subtype.

The characteristic hallmarks of EDS that distinguishes it from other conditions are:^1,2

• joint hypermobility (double-jointedness) – presence of joints that can bend further than the normal range
• skin hyperextensibility – skin that can stretch beyond the normal range before returning to normal
• tissue fragility – more likely to bruise easily and have delayed wound healing with atrophic scars

Individuals with EDS also often report experiencing pain, chronic fatigue, muscle weakness, tendency to fall and difficulties in doing typical, daily activities (functional disability), including walking in some cases.^3,5,6 Other signs, symptoms and complications of EDS include:^1-8

• chronic and acute pain that can affect bones, joints, ligaments, tendons or muscles
• skeletal changes affecting the chest wall and roof of mouth (palate)
• skin manifestations
• increased risk of vascular, organ and muscle rupture and bleeding complications
• cardiovascular (heart and blood vessels) issues
• gastrointestinal (digestive system) issues
• immunological (immune system) issues
• urinary issues
• gynaecological (female reproductive organs) issues
• ocular (eye and vision) issues

There are other health conditions that are noted to occur frequently (comorbidities) or have overlapping symptoms in some individuals with EDS, in particular hEDS. These include conditions affecting the autonomic nervous system (dysautonomias) such as postural orthostatic tachycardia syndrome (POTs) and orthostatic intolerance (OI), and mast cell activation syndrome (MCAS).^3,4,9,10 There are also some reported associations between EDS and psychiatric conditions, such as anxiety and depressive disorders.^9,11-12

There may be further health issues and complications associated with EDS that have not been covered here. More information about the specific clinical features of each EDS subtype can be found in the 2017 international classification of the Ehlers–Danlos syndromes.

Please also speak to your medical team to learn more about the symptoms and complications of a specific subtype of EDS.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Ehlers-Danlos syndromes (EDS) are genetic conditions that are heritable (can be passed on from one generation to another).¹ They are caused by disease-causing genetic variants in specific genes that have an important role in connective tissue integrity. Causal genes have been identified for 12 of the 13 subtypes, with hypermobile EDS (hEDS) being the only subtype where the genetic basis is still yet to be established.^1,2

Depending on the EDS subtype, the condition may be inherited in an autosomal dominant or recessive manner.^1-3 More information about the specific genetic and its corresponding clinical features of each EDS subtype can be found in the 2017 international classification of the Ehlers–Danlos syndromes.¹

More information on the relevant inheritance patterns can be found at:

• Centre for Genetics Education: Autosomal dominant inheritance
• Centre for Genetics Education: Autosomal recessive inheritance

If you would like to learn more about the inheritance and impact of a particular type of EDS where the genetic cause has been identified, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of Ehlers-Danlos syndromes (EDS) is specific for each EDS subtype. A set of major and minor diagnostic criteria has been proposed for each subtype, as outlined in the the 2017 international classification of the Ehlers–Danlos syndromes.¹

Genetic testing may be used to confirm an EDS diagnosis for all subtypes, except for hypermobile EDS (hEDS).¹ As the genetic basis of hEDS is not known, genetic testing is not possible and diagnosis of hEDS is solely based on clinical features and symptoms (clinical diagnosis). For individuals that do not meet the clinical criteria for hEDS but have symptomatic joint hypermobility, a diagnosis of hypermobility spectrum disorder (HSD) may be considered.^2,8

A paediatric diagnostic framework for children with joint hypermobility has been proposed in 2023 by the Paediatric Working Group of the International Consortium on Ehlers Danlos Syndromes (EDS) and hypermobility spectrum disorders (HSD).

Differential diagnosis (to rule out other conditions) includes hypermobility spectrum disorder (HSD), cutis laxa syndromes, Marfan syndrome, Stickler syndrome, Loeys–Dietz syndrome, arterial tortuosity syndrome, osteogenesis imperfecta, Larsen syndrome, and other skeletal dysplasias, and Bethlem myopathy.^1,2

Please speak to your medical team to learn more about the available diagnostic pathways for a particular subtype of EDS.

There is no overall curative treatment for Ehlers-Danlos syndromes (EDS), but there are strategies to manage the symptoms (symptomatic management) and complications of the various EDS subtypes. Management of EDS typically requires a multidisciplinary care team.²

Management strategies may include pain management, physiotherapy, dietary considerations, and use of orthotics, braces, splints, assistive equipment and mobility aids.^2,6,13 It is also recommended that individuals with EDS have awareness about prevention and early recognition of injuries and complications associated with EDS, and exercise caution when participating in activities that may put stress on joints or cause injury, including sports.³

Monitoring and treatment of cardiovascular, gastrointestinal, immunological and other complications may be required for some individuals.³

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of Ehlers-Danlos syndromes (EDS) may include general practitioners (GP), paediatricians, physicians, geneticists, rheumatologists, dermatologists, cardiologists, vascular surgeons, neurologists, gastroenterologists, pulmonologists, orthopaedists endocrinologists, dentists, orthodontists, physiotherapists, occupational therapists, psychologists, psychiatrists and dieticians.^{2,3, 5-7} The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinics:

Connective Tissue Dysplasia (CTD) Clinic (Sydney)
Clinical Genetics
The Children’s Hospital at Westmead
Website: https://www.schn.health.nsw.gov.au/clinical-genetics-childrens-hospital-westmead

The Connective Tissue Dysplasia (CTD) clinic provides a tertiary diagnostic advice and rehabilitation services for children with Connective Tissue Disorders such as Marfan Syndrome or genetic forms of Ehlers-Danlos Syndrome. The Clinical Genetics Department does not provide ongoing management for children with Connective Tissue Dysplasias.

Clinical Genetics Service at Royal Prince Alfred (RPA) Hospital (Sydney)
Website: https://slhd.health.nsw.gov.au/rpa/services/clinical-genetics-service/ehlers-danlos-syndrome-and-hypermobility-spectrum-disorder

The Clinical Genetics Service at RPA Hospital can provide tertiary diagnostic advice for children and adults with rare heritable connective tissue disorders such as EDS and Marfan Syndrome.

Ehlers-Danlos Syndrome (EDS) Genetics Clinic (Melbourne)
Genetic Medicine
The Royal Melbourne Hospital (RMH Parkville)
Website: https://www.thermh.org.au/services/genetic-medicine

The RMH Parkville Genetic Medicine service provides risk assessment, genetic counselling, genetic testing and medical advice as well as psychological support to individuals and their family members.

We are not aware of any current official clinical care guidelines for Ehlers-Danlos syndromes (EDS) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• The 2017 international classification of the Ehlers–Danlos syndromes proposed a revised EDS classification, which recognizes 13 subtypes and a set of clinical criteria that are suggestive for the diagnosis of each subtype
• Special Issue: The Ehlers‐Danlos Syndromes: Reports from the International Consortium on the Ehlers‐Danlos Syndromes provides information, including reviews and consensus recommendations, on classifications, diagnosis and management of the various EDS subtypes
• Pediatric joint hypermobility: a diagnostic framework and narrative review presents a paediatric diagnostic framework for children with joint hypermobility; developed by the Paediatric Working Group of the International Consortium on Ehlers Danlos Syndromes (EDS) and hypermobility spectrum disorders (HSD) and published in 2023

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with Ehlers-Danlos syndromes (EDS) at emergency departments/services:

• Individuals with EDS may have very fragile skin and may bruise easily^1,2
• Individuals with EDS have joint hypermobility and may experience pain, sprains, and for some types of EDS, may have joint dislocations^1,2
• Individuals with EDS often have atrophic scars^1,2
• There may be life-threatening complications, such as increased risk of vascular, organ and muscle rupture, particularly for individuals with vascular EDS (vEDS)^1,2
• EDS typically affects various tissues and organs,² and some individuals with EDS may have overlapping symptoms with other conditions,¹⁰ hence it is important for medical professionals to be aware of, and take into account, the individual’s medical history and experiences

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) is a review that focuses on issues relevant for anaesthesia for elective and emergency surgery in EDS; please note that it was published in 2014 and may not include up to date information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Connective Tissue Disorders Network Australia (CTDNA) 
Website: https://ctdna.org.au/
Contact form: https://ctdna.org.au/contact-us/

Connective Tissue Disorders Network Australia (CTDNA) is the collaborative effort of people both living with, and / or caring for those with HCTD. Individuals are often both; a patient, and a carer. CTDNA seeks to establish a national network of lived experience advocates, healthcare professionals and researchers with an interest in HCTD – a network of like-minded individuals coming together to better the care and management of Australians impacted by HCTD.

Global Organisation:

The Ehlers Danlos Society 
Website: https://www.ehlers-danlos.com
The Ehlers-Danlos Society is a global organisation dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD).

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Ehlers-Danlos syndromes (EDS) varies between individuals, and each person’s experience is unique.

Personal Stories shared with Rare Voices Australia:

• Janna’s Story
• Jessica’s Story

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Ehlers-Danlos syndromes (EDS) can be found at:

• healthdirect: Ehlers-Danlos syndrome
• The Ehlers Danlos Society: 2017 EDS International Classification
• Ehlers-Danlos Support UK (EDS UK): The Ehlers-Danlos syndromes (EDS) GP Toolkit
• Genetic and Rare Diseases (GARD) Information Center: Ehlers Danlos syndrome
• National Organization for Rare Disorders (NORD): Ehlers Danlos syndrome

• Healthed: Ehlers-Danlos syndrome (EDS): Understanding subtypes, genetics, and the diagnostic journey
• The Ehlers Danlos Society: EDS ECHO Multidisciplinary Team Practice Australasia program
• Reports from the International Consortium on the Ehlers‐Danlos Syndromes
• The 2017 international classification of the Ehlers–Danlos syndromes
• Orphanet: Ehlers-Danlos syndrome

hEDS-specific resources:

• AusDoc: A GP guide to hypermobile Ehlers-Danlos syndrome
• Royal Australian College of General Practitioners (RACGP): Hypermobility syndromes in children and adolescents
• Diagnostic Criteria Checklist for Hypermobile Ehlers-Danlos Syndrome (hEDS) – distributed by The Ehlers-Danlos Society; please refer to the 2017 international classification of Ehlers-Danlos syndrome (linked above) for the complete criterion information and context
• Ehlers-Danlos Support UK (EDS UK): The Ehlers-Danlos syndromes (EDS) GP Toolkit

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team through consultations with Connective Tissue Disorders Network Australia (CTDNA) and an lived experience expert.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.