Arthrogryposis multiplex congenita
Other Names for this Disease
- Congenital arthromyodysplasia
- Congenital multiple arthrogryposis
- Fibrous ankylosis of multiple joints
- Guerin-Stern syndrome
Your QuestionTwo members of my immediate family died at birth as a result of arthrogryposis. Is this condition inherited? Can I have genetic testing done to determine my risk to have children with this condition?
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Questions on this page
- What is arthrogryposis multiplex congenita?
- What causes arthrogryposis multiplex congenita?
- Is arthrogryposis multiplex congenita inherited?
- Is genetic testing available for arthrogryposis?
- How can I learn about medical research into arthrogryposis multiplex congenita?
- How can I find a genetics professional in my area?
The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood. The most common cause of AMC is believed to be decreased fetal movement, which in itself can have multiple causes. When a joint is not moved for a period of time, extra connective tissue often grows around it, fixing it in position. Lack of joint movement also means that tendons connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult.
In general, there are four causes for limitation of joint movement before birth:
Malformations of the central nervous system and/or spinal cord. In these cases, arthrogryposis is usually accompanied by a wide range of other symptoms.
Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.
AMC may also occur as part of certain genetic disorders that can be inherited as autosomal recessive, autosomal dominant or X-linked traits. It may also occur as part of chromosome disorders (for example, trisomy 18).
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Chen H. Arthrogryposis. eMedicine. August 8, 2007; http://emedicine.medscape.com/article/941917-overview. Accessed 2/2/2009.
- Arthrogryposis Multiplex Congenita. NORD. June 21, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract. Accessed 6/12/2012.
- My Child Has...Arthrogryposis. Children's Hospital Boston. 2007; http://www.childrenshospital.org/az/Site594/mainpageS594P0.html. Accessed 2/2/2009.
- Arthrogryposis: What it is and how it is treated. A National Support Group for Arthrogryposis Multiplex Congenita (AVENUES). http://www.avenuesforamc.com/publications/pamphlet.htm. Accessed 10/15/2013.