Arthrogryposis Multiplex Congenita
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Arthrogryposis Multiplex Congenita is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Arthrogryposis is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas of the body prior to birth (congenitally). A contracture is a condition in which a joint becomes permanently fixed in a bent (flexed) or straightened (extended) position, completely or partially restricting the movement of the affected joint. When congenital contractures occur only in one body area, it is not referred to as arthrogryposis but rather an isolated congenital contracture. The most common form of an isolated congenital contracture is clubfoot. When arthrogryposis affects two or more different areas of the body, it may be referred to as arthrogryposis multiplex congenita (AMC). The most common form of AMC is amyoplasia. Arthrogryposis and arthrogryposis multiplex congenita are sometimes used interchangeably.
The symptoms of AMC are present at birth (congenital). However, specific symptoms and physical findings can differ greatly in range and severity from one person to another. In most cases, affected infants have contractures of various joints. The joints of the legs and arms are usually affected, the legs are affected more often than the arms. The joints of the shoulders, elbows, knees, wrists, ankles, fingers, toes, and/or hips are also commonly affected. In addition, the jaws and back may also be affected in individuals with AMC. In most cases, AMC occurs randomly, for no apparent reason (sporadic). More than 400 different conditions can cause isolated or multiple contractures and the causes, genetics, specific symptoms, and severity of these disorders vary dramatically. Over 125 genes have been identified as responsible for different types of arthrogryposis.
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Arthrogryposis Multiplex Congenita Support, Inc.
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes Birth Defects Foundation
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 12/18/1969
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