Ehlers-Danlos syndromes (EDS)

Introduction:

Classification:

https://doi.org/10.1002/ajmg.c.31552

Nature Disease Primer:

![The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types. These types are caused by variants in 20 different genes, the majority of which encode the fibrillar collagen types I, III and V, modifying or processing enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans.

Ehlers-Danlos syndromes. Nat Rev Dis Primers 6, 63 (2020). https://doi.org/10.1038/s41572-020-0206-9](https://s3-us-west-2.amazonaws.com/secure.notion-static.com/21a45e4c-40ed-4ed9-b994-0aff0f050e57/Ehlers-Danlos_syndromes.png)

The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types. These types are caused by variants in 20 different genes, the majority of which encode the fibrillar collagen types I, III and V, modifying or processing enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans.

Ehlers-Danlos syndromes. Nat Rev Dis Primers 6, 63 (2020). https://doi.org/10.1038/s41572-020-0206-9