Understanding Ehlers-Danlos Syndrome

It is a group of inherited connective tissue disorders that cause issues with collagen production and structure. This affects all types of connective tissues, including cartilage, bones, blood, fat, fascia, muscles, skin, joints, tendons, ligaments, and blood vessels. While EDS is a multi-systemic disorder, this website focuses on the musculoskeletal aspects of the disorder. 

At this time, 13 types of EDS have been identified, and the most common type, hypermobility type, has not had a genetic marker identified. Many doctors will not diagnose EDS, so it is important to find a doctor who will. Most often, this is a geneticist, and if they run the tests and you are negative, you can still have hypermobility type based on flexibility tests and your personal and/or family history. Getting diagnosed is important to validate your issues, know what to look out for, and how to better care for your body as you go through life.

There has recently been a 14th type of EDS discovered, but it has not yet made it into all the classification pages. This new type, called Classic-like Type 2, has been associated with a newly identified gene. Here are some studies that include the new 14th type called Classic-like Type 2:

• MORE THAN HYPERMOBILE: EHLERS-DANLOS AND ITS RARER FORMS
• Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
• Definition: https://www.ehlers-danlos.com/what-is-eds/
• Types: https://www.ehlers-danlos.com/types/
• EDS Diagnostics: https://www.ehlers-danlos.com/eds-diagnostics/
• Assessing Joint Hypermobility (Beighton Scoring): https://www.ehlers-danlos.com/assessing-joint-hypermobility/