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Connective tissue diseases can be classified into two groups: (1) a group of relatively rare genetic disorders affecting the primary structure of connective tissue; and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.
Collagens are complex molecules that provide structure, strength, and elasticity to connective tissue. Type II and type XI collagen disorders are grouped together because both types of collagen are components of the cartilage found in joints and the spinal column, the inner ear, and the jelly-like substance that fills the eyeball (the vitreous ...
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation , [ 3 ] or tethered spinal cord syndrome .
PXE is caused by mineralization in connective tissues in mainly the skin, eyes, and blood vessels. [14] As a result of mineralized buildup in the vascular wall, patients may be at a greater risk for intermittent claudication, a condition in which cramping pain in the leg is induced by exercise, [15] and peripheral artery disease. [14]
Some experts consider MCTD to be the same as undifferentiated connective tissue disease, [7] but other experts specifically reject this idea [8] because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP. Furthermore, MCTD is associated with a more clearly defined set of ...
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. [1] 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 and ...
It is somewhat similar to other genetic connective tissue disorders such as Ehlers–Danlos syndromes. There is a strong association between HSD and neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism spectrum disorder .