The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the gastric mucosa||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the pleura||90%|
|Abnormality of the wrist||90%|
|Aplasia/Hypoplasia of the lungs||90%|
|Congenital diaphragmatic hernia||90%|
|Depressed nasal ridge||90%|
|Low-set, posteriorly rotated ears||90%|
|Ulnar deviation of finger||90%|
The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood. AMC is thought to be related to decreased fetal movement during development, which can occur for a variety of reasons. When a joint is not moved for a period of time, extra connective tissue may grow around it, fixing it in place. Lack of joint movement also means that tendons connected to the joint are not stretched to their normal length, which can make normal joint movement difficult.
In general, there are four causes for decreased fetal movement before birth:
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
GARD Information Navigator
May 10, 2016
The following diseases are related to Arthrogryposis multiplex congenita. If you have a question about any of these diseases, you can contact GARD.
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What would cause 2 children of the same family to have this disease, and how common is it? See answer
Two 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? See answer
My daughter was born with Guérin-Stern syndrome, now more commonly known as arthrogryposis multiplex congenita or arthrogryposis. I would like information about this condition, as well as resources for group discussions, medical research, and specialists in the field. See answer