Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the … They were once considered to be very rare and only seen by rheumatologists. The signs and symptoms of hypermobile Ehlers-Danlos syndrome vary but may include:. Am J Hum Genet. Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. How to Diagnose Ehlers‐Danlos Syndrome. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the … These tissues—found mostly in the skin, joints, and blood vessel walls—act like a glue to help provide strength and elasticity to the body’s structures, including the digestive system and essential organs. Am J Med Genet C Semin Med Genet 2017; 175:27. Most people with EDS have loose joints, sometimes called “double-jointedness.” This is due to abnormal connective tissue. Classical Ehlers-Danlos syndrome [1, 6, 7] Classical EDS (cEDS) affects 1 in 20,000-50,000 people. Colige A et al. Ehlers-Danlos Syndrome (EDS) is a rare genetic disorder that affects the body's connective tissues, like the skin, joints, ligaments, and blood vessel walls. Ehlers-Danlos syndrome (EDS) is a group of disorders involving connective tissue. Joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints; Frequent joint dislocations and subluxations (partial dislocation), often affecting the shoulder, kneecap, and/or temporomandibular joint (joint that connects the lower jaw to the skull) Criteria for the 3 most common types of EDS are described below. Hypermobile Ehlers-Danlos syndrome (hEDS), which used to be known as the hypermobility type or type 3, is thought to be the most common genetic connective tissue disorder. Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. It is characterized by loose, hypermobile joints and chronic joint pain. It identified two patients who did not meet the current diagnostic criteria but who had genetic abnormalities underlying EDS. Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous connective tissue disorder that can affect the integrity of the skin, joints, blood vessels and internal organs.Clinical features include joint hypermobility or recurrent dislocation, abnormal bruising or bleeding, hyperextensible skin, unexplained vessel aneurysm or dissection, or unexplained rupture of an internal organ. Smith LT et al. These are things like tendons and ligaments that hold parts of your body together. Diagnostic criteria differs depending on which type of EDS is suspected.