Ehlers-Danlos syndromes

What causes Ehlers-Danlos syndromes?

Ehlers-Danlos syndromes (EDS) are genetic disorders that can be caused by mutations in several different genes, including COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14 _and ADAMTS2. _However, the underlying genetic cause is unknown in some families.

Mutations in these genes usually change the structure, production, and/or processing of collagen, or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs, resulting in the signs and symptoms of EDS.

The Ehlers-Danlos Society website has a more complete list of genes associated with EDS.

Last updated on 05-01-20

How is Ehlers-Danlos syndrome diagnosed?

A diagnosis of the Ehlers-Danlos syndromes (EDS) is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis:

Last updated on 05-01-20

Are Ehlers-Danlos syndromes inherited?

The inheritance pattern of Ehlers-Danlos syndromes (EDS) varies by subtype. The arthrochalasia EDS, classical EDS, hypermobile EDS, periodontal EDS, some cases of myopatic EDS, and vascular forms of EDS usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person needs to have a change (mutation) in only one copy of the disease-causing gene in each cell. In some cases, a person with these forms of EDS inherits the mutation from an affected parent. Other cases may result from new ( de novo) mutations in the gene; these cases occur in people with no family history of EDS. Each child of a person with autosomal dominant EDS has a 50% chance of inheriting the mutation.

The dermatosparaxis EDS, kyphoscoliosis EDS, classical-like EDS, cardiac- vascular EDS, brittle cornea syndrome, spondylodysplastic EDS, musculocontractural EDS, and some cases of myopatic EDS are inherited in an autosomal recessive pattern. This means that have any of these types of EDS, a person must have a mutation in both copies of the disease-causing gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with the Ehlers-Danlos syndromes?

The long-term outlook (prognosis) for people with Ehlers-Danlos syndromes (EDS) varies by subtype. The vascular type is typically the most severe form of EDS and is often associated with a shortened lifespan. People affected by vascular EDS have a median life expectancy of 48 years and many will have a major event by age 40. The lifespan of people with the kyphoscoliosis form is also decreased, largely due to the vascular involvement and the potential for restrictive lung disease.

Other forms of EDS are typically not as dangerous and can be associated with normal lifespans. Affected people can often live healthy if somewhat restricted lives.

Last updated on 05-01-20

How might Ehlers-Danlos syndrome be treated?

The treatment and management of Ehlers-Danlos syndrome (EDS) is focused on preventing serious complications and relieving signs and symptoms. The features of EDS vary by subtype, so management strategies differ slightly. Because several body systems may be affected, different medical specialists may need to be involved. The main aspects of management include cardiovascular (heart) work-up, physical therapy, pain management, and psychological follow-up as needed. Surgery is sometimes recommended for various reasons in people with EDS. However, depending on the type of EDS and severity, there may be an increased risk of various surgical complications such as wound healing problems, excessive bleeding, dissection, and hernias. Surgery for non-life threatening conditions particularly should be carefully considered.

For more specific information on the treatment of each subtype, please click on the links below:

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

Last updated on 05-01-20

Name: Ehlers-Danlos Society PO Box 87463
Montgomery Village, MD, 20886, United States
Phone: 410-670-7577 Email: Url:
Name: Ehlers-Danlos Support UK PO Box 748
Borehamwood , WD6 9HU, United Kingdom
Phone: 0208 736 5604 Toll Free: 0800 907 8518 (in the UK) Email: Url:
Name: The Zebra Network 1122 Kenilworth Drive Suite 307
Towson, MD, 21204,
Phone: 410-825-0995 Email: Url:
Name: Hypermobility Syndromes Association HMSA 49 Greek Street
London, WD1 4EG, United Kingdom
Phone: 033 3011 6388 Email: Url:
Name: The Ehlers-Danlos Society – Europe Office Office 7 35-37 Ludgate Hill
London, EC4M 7JN, United Kingdom
Phone: +44 203 887 6132 Email: Url:
Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes UpToDate. 2018; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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