Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders, with genetic changes affecting connective tissue. Each type of EDS has its own set of features with diagnostic criteria. Several features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility. EDS are named after two doctors, Dr. Edvard Ehlers and Dr. Henri-Alexandre Danlos, who described the condition in the early twentieth century.
The current classification includes 13 types of Ehlers-Danlos syndrome. Each type of EDS is caused by variants in specific genes that provide the instructions for making collagens and related proteins. Some types of EDS are associated with multiple different genes. This results in a unique set of features for each type of EDS.
Connective tissue is found throughout the body, where it provides support, protection, and structure to other parts of the body. Connective tissue disorders are caused by issues that prevent connective tissue from functioning properly.
Collagen is the primary component of connective tissue. There are different types of collagens with different functions. EDS are caused by changes in the genes that affect the structure and function of collagen and related connective tissue proteins.
Learn More
Ehlers-Danlos Syndrome | Medline Plus
What is EDS? | The Ehlers-Danlos Society
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31549
Neurological and Spinal Manifestations of the Ehlers-Danlos Syndromes (for Non-experts)
