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Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affects the connective tissue. [1] The body's structures are held together by connective tissues, consisting of two distinct proteins : elastin and collagen .
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3] [4] [5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.
The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity to connective tissue.
High incidences of coexisting inflammatory disorders suggest a correlation between connective tissue disorders and the development of such aforementioned conditions. Inflammatory bowel diseases such as Crohn's disease, ulcerative colitis [74] and celiac disease [75] are more common in EDS patients when compared to control groups.
Different types of connective tissue disease, such as transitory illnesses and the early stages of characterized connective tissue diseases that will become completely defined in a few months or years, should be considered in the differential diagnosis. [66]
Collagens are complex molecules that provide structure and strength to connective tissue (the tissue that supports the body's joints and organs). Mutations in any of these genes disrupt the production, processing, or assembly of type II or type XI collagen. Defective collagen molecules or reduced amounts of collagen affect the development of ...