Ehlers-Danlos Syndrome
By Sequencing Team, The team of bioinformaticians, Genetic Health Coaches, and writers at Sequencing.
What Is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissue, the material that supports the skin, joints, blood vessels and organs. People with EDS may have joints that move beyond the normal range, skin that stretches or bruises easily, and tissues that are fragile. Symptoms and severity vary widely, even among members of the same family.
Types of EDS and the Genes Involved
The 2017 international classification describes 13 types of EDS. Most types are linked to variants in genes that build or process collagen and other connective tissue proteins. For example, classical EDS is most often linked to COL5A1 and COL5A2, and vascular EDS to COL3A1. In the 2017 classification, hypermobile EDS was the one type without an identified gene, so it is diagnosed from clinical criteria.
How Is EDS Diagnosed?
Diagnosis starts with a clinical evaluation of symptoms and family history by a physician. For most types, genetic testing can confirm the diagnosis by finding a variant in a known EDS gene. A negative genetic test does not rule out hypermobile EDS, which is diagnosed from clinical criteria.
How DNA Data Can Help
If you already have DNA data, it can be reviewed for variants in genes linked to EDS. Results are most useful when shared with a doctor or genetic counselor, who can place them in the context of your symptoms and family history.
Explore the EDS Guides
- Understanding Ehlers-Danlos Syndrome (EDS): the types and subtypes of EDS, the genes involved, symptoms and complications.
- Diagnosing Ehlers-Danlos Syndrome (EDS): DNA Testing Guide: how DNA testing fits into the diagnosis process.
- DNA Data Can Help You Understand Ehlers-Danlos Syndrome (EDS): how to use your genetic data to learn about EDS.
- Genetic Screening for Ehlers-Danlos Syndrome (EDS): A Comprehensive Guide: what genetic screening can and cannot tell you.
Learn More
For a general overview from the U.S. National Library of Medicine, see MedlinePlus Genetics: Ehlers-Danlos syndrome.
This page is for general education and is not a substitute for professional medical advice, diagnosis, or treatment. Talk to a qualified healthcare provider about your own health and test results.
Frequently Asked Questions
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissue. It can cause joints that move beyond the normal range, skin that stretches or bruises easily, and fragile tissues. Symptoms and severity vary widely from person to person.
The 2017 international classification describes 13 types of EDS. Each type has its own features, and most are linked to variants in genes involved in making connective tissue.
For most types of EDS, genetic testing can confirm a diagnosis by finding a variant in a known EDS gene. Hypermobile EDS has no identified gene in the 2017 classification, so it is diagnosed from clinical criteria and a negative genetic test does not rule it out.
EDS is an inherited condition. Many types are passed down in an autosomal dominant pattern, and some are passed down in an autosomal recessive pattern. A genetic counselor can explain what a result means for you and your family.