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No cure for Ehlers–Danlos syndrome is known, and treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help stabilize the joints and prevent injury.
1281 12825 Ensembl ENSG00000168542 ENSMUSG00000026043 UniProt P02461 P08121 RefSeq (mRNA) NM_000090 NM_001376916 NM_009930 RefSeq (protein) NP_000081 NP_034060 Location (UCSC) Chr 2: 188.97 – 189.01 Mb Chr 1: 45.35 – 45.39 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each ...
Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3] In 2017, an international workshop proposed a redefined criteria and naming system for limb-girdle muscular dystrophies.
What is Ehlers-Danlos syndrome? It’s actually a group of 13 related disorders caused by different genetic defects in collagen, an essential building block, according to the National Organization ...
Ehlers-Danlos syndrome is a genetic disorder in humans and animals which can cause connective tissue disorders, hyper mobility, bruising, and a range of other issues. In cats it cause limb ...
Ehlers–Danlos syndrome - diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints, blood vessels, and internal organs. [5] Osteogenesis imperfecta - hereditary condition marked by reduced bone mass, weakened bones, increased brittleness, and short ...
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .
Henri-Alexandre Danlos (/ ˈ d æ n l ɒ s /, French pronunciation: [ɑ̃ʁi alɛksɑ̃dʁ(ə) dɑ̃los]; 26 March 1844 – 12 September 1912) was a French physician and dermatologist born in Paris. With Danish dermatologist Edvard Ehlers (1863-1937), the Ehlers–Danlos syndromes , which comprise a group of inherited connective-tissue ...