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Results 1 - 10 of 45 for Abnormality of connective tissue
  1. Williams syndrome 
    ... Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and ... of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  2. Congenital contractural arachnodactyly 
    ... disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  3. Dupuytren contracture 
    ... risk of developing other disorders in which similar connective tissue abnormalities affect other parts of the body. These include ... III collagen likely results in the changes in connective tissue that occurs ... are related to these abnormalities and how they contribute to the risk of ...
    https://medlineplus.gov/genetics/condition/dupuytren-contracture - Genetics
  4. Systemic scleroderma 
    ... erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome. The prevalence ...
    https://medlineplus.gov/genetics/condition/systemic-scleroderma - Genetics
  5. Caffey disease 
    ... who had Caffey disease in infancy have other abnormalities of the bones and connective tissues, which provide strength and flexibility to structures throughout ...
    https://medlineplus.gov/genetics/condition/caffey-disease - Genetics
  6. Buschke-Ollendorff syndrome 
    ... the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density ...
    https://medlineplus.gov/.../condition/buschke-ollendorff-syndrome - Genetics
  7. Weill-Marchesani syndrome 
    ... with the normal assembly of microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome.In some people ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  8. Spondyloperipheral dysplasia 
    ... disrupts the normal development of bones and other connective tissues, leading to the skeletal abnormalities seen in people with spondyloperipheral dysplasia. COL2A1 This ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  9. Osteogenesis imperfecta 
    ... the production of collagen molecules. These changes weaken connective tissues, leading to severe bone abnormalities and problems with growth. Other genes involved in ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  10. Platyspondylic dysplasia, Torrance type 
    ... enough functioning type II collagen, bones and other connective tissues cannot develop properly, leading to the skeletal abnormalities seen in infants with platyspondylic dysplasia, Torrance type. ...
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
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