what is EHLERs-danlos syndrome
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Ehlers-Danlos Syndrome: What Is It and How Is It Treated? Ehlers-Danlos syndrome (EDS) is an inherited condition that affects the connective tissues in the body. Connective tissue is responsible for supporting and structuring the skin, blood vessels, bones, and organs.It’s made up of cells, fibrous material, and a protein called collagen.he hypermobility and classic types of Ehlers-Danlos syndrome are the most common. The other types are rare, with the dermatosparaxis type affecting only about a dozen children on record worldwide. According to the National Library of Medicine’s Genetics Home Reference, EDS is seen in 1 in 5,000 people worldwide.
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Hypermobile Ehlers-Danlos syndrome Listen. 1  The signs and symptoms of hypermobile Ehlers-Danlos syndrome vary but may include: 2  Although hypermobile Ehlers-Danlos syndrome is thought to be a genetic condition, the underlying cause is unknown in most cases. A small percentage of people with this condition have a change (mutation) in the TNXB gene.
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Ehlers-Danlos syndrome Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs.
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- Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children.
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What Is Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome is a group of disorders that mostly affect your skin, joints, and blood vessels. People with EDS often have very flexible joints and stretchy skin that bruises easily. Connective tissue is one of your body’s basic building blocks.
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- These are some that have been made about Ehlers-Danlos Syndrome (EDS). They false assumptions stem from a lack of understanding, education, and knowledge about this disorder.This section was created in hopes of clarifying some of these false assumptions.act: No. An auto-immune disease is one that is defined as a disorder that results from disregulation of the immune system. The presence of an autoimmune response is signaled by the appearance of auto-antibody in the circulation.
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- Summary Summary. Listen. Ehlers-Danlos syndrome due to tenascin-X deficiency (EDS due to 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.
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What are the Ehlers-Danlos Syndromes? The two known inheritance patterns for the Ehlers-Danlos syndromes include autosomal dominant and autosomal recessive. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. What is the prognosis of someone with an Ehlers-Danlos Syndrome?
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Ehlers-Danlos Syndrome Ehlers-Danlos syndrome is a heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, cutaneous fragility, and hyperextensibility. The collagen defect has been identified in only 6 of the 11 types of Ehlers-Danlos syndrome.
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Ehlers-Danlos Syndrome (EDS) Ehlers-Danlos Syndrome Symptoms. Because EDS is a collection of disorders, symptoms can vary by the specific disorder; however, joint hypermobility (the ability to extend beyond the normal range of motion) and excessively stretchy skin or easy bruising are among the more common symptoms shared among the disorders.he diagnosis of Ehlers-Danlos syndrome is based initially the findings of a family and medical history and physical exam. A doctor who suspects a diagnosis of Ehlers-Danlos syndrome can confirm the diagnosis through genetic tests performed on a sample of blood.
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Ehlers-Danlos syndrome Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs.Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.islocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile.
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Ehlers-Danlos Syndrome In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels).
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- The exact cause of Ehlers-Danlos syndrome hypermobility type is not known; however, a small per-. centage of the time it is believed to be caused by a change (mutation) in the TNXB gene (tenascin-X). Most people diagnosed with Ehlers-Danlos syndrome hypermobility type inherit it from a parent.
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Overview Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common varieties of Ehlers-Danlos syndrome, there's a 50 percent chance that you'll pass on the gene to each of your children.
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Stickler Syndrome Stickler syndrome is a genetic condition that's typically inherited in an autosomal dominant pattern. This means that if one parent has it, there is a 50 percent chance of transmitting the condition to each child. Both boys and girls can be affected. The condition can also occur for the first time in the family.
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Stickler syndrome Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint problems. It was first studied and characterized by Gunnar B. Stickler in 1965.
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Overview Reye's syndrome. Definition. Reye's (Ryes) syndrome is a rare but serious condition that causes swelling in the liver and brain. Reye's syndrome most often affects children and teenagers recovering from a viral infection, most commonly the flu or chickenpox.
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- Unpredictable ruptures of arteries and organs are the most serious complications of the Vascular Type of Ehlers-Danlos Syndrome. A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Rupture of the intestine is seen in 25 to 30 percent of affected individuals and tearing of the uterus (womb) during pregnancy affects 2 to 3 percent of women.
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Ehlers-Danlos Syndrome The Tenascin-X Deficient Type of EDS is characterized by. joint hypermobility, hyperelastic skin, and fragile tissue. Lacking multiple shrinking (atrophied) scars in the skin that is often seen in the Classic Type of Ehlers-Danlos Syndrome. Inherited as an autosomal recessive genetic trait (not seen in family members or only in one generation of members of the same family). web site by ~ Lynn Sanders.
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- Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types.hlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types.
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Ehlers-Danlos syndrome Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals.
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Alone we are rare. Together we are strong.â¥ Donate Today Megalocornea intellectual disability syndrome, otherwise known as Neuhauser syndrome, is an extremely rare genetic disorder characterized by distinctive abnormalities of the eye, several degrees of cognitive impairment, and a wide variety of additional symptoms The range and severity of the symptoms varies greatly from one person to another, which ...
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- Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint problems. It was first studied and characterized by Gunnar B. Stickler in 1965.
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Overview People who have Ehlers-Danlos syndrome, vascular type, often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily.
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Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings.
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Classical-like Ehlers-Danlos syndrome Summary Summary. Ehlers-Danlos syndrome due to tenascin-X deficiency (EDS due to 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.