EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2

WebApr 10, 2024 · For those with hypermobile Ehlers-Danlos syndrome (EDS), the same conditions that create fragile connective tissue can cause a range of symptoms that, on … WebEhlers-Danlos Syndrome – Ten different types of this disorder, which lead to deformities in connective tissue. Some types can be lethal, leading to the rupture of arteries. Each syndrome is caused by a different mutation, for example type four of this disorder is caused by a mutation in collagen type 3. buff anime male oc

WebFeb 11, 2024 · Ehlers-Danlos syndromes (EDS) are a group of inherited conditions that cause abnormal collagen function. They can affect connective tissues that support and structure the skin, joints, bones ... WebFeb 25, 2013 · A number sign (#) is used with this entry because Ehlers-Danlos syndrome classic type 2 (EDSCL2) is caused by heterozygous mutation in the collagen alpha-2 (V) gene (COL5A2; 120240) on chromosome 2q31. Rarely, specific mutations in the COL1A1 gene (e.g., R134C, 120150.0059) cause classic EDS. History [ edit] 305200: type 5 130080: type 8 – unspecified gene, locus 12p13 225310: type 10 – unspecified gene, locus 2q34 608763: Beasley–Cohen type 130070: progeroid form – B4GALT7 130090: type unspecified 601776: D4ST1 -deficient Ehlers–Danlos syndrome (adducted thumb-clubfoot syndrome) … See more Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with the latest type discovered in 2024. Symptoms often include loose joints, joint pain, stretchy … See more Every type of EDS except the hypermobile type (which affects the vast majority of people with EDS) can be positively tied to specific genetic … See more A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and … See more The outcome for individuals with EDS depends on the specific type of EDS they have. Symptoms vary in severity, even in the same disorder, and the frequency of complications … See more In 2024, 13 subtypes of EDS were classified using specific diagnostic criteria. According to the Ehlers–Danlos Society, the syndromes can also be grouped by the symptoms … See more This group of disorders affects connective tissues across the body, with symptoms most typically present in the joints, skin, and blood vessels. However, as connective tissue is found throughout the body, EDS may result in an array of unexpected … See more No cure for Ehlers–Danlos syndromes is known, and treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, … See more buff anime male