Arthrogryposis multiplex congenita
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Arthrogryposis; Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints;
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint
AMC is not a specific diagnosis, but rather a physical symptom that can be found in many different medical conditions. The signs and symptoms associated with AMC can, therefore, vary greatly in range and severity depending on the underlying condition.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal pleura morphology||0002103|
|Abnormality of the gastric mucosa||
Abnormality of the mucous membrane layer of stomach
|Abnormality of the wrist||
Abnormalities of the wrists
|Aplasia/Hypoplasia of the lungs||
[ more ]
|Arthrogryposis multiplex congenita||0002804|
|Depressed nasal ridge||
Recessed nasal ridge
[ more ]
Dislocation of hip
[ more ]
|Low-set, posteriorly rotated ears||0000368|
Swelling caused by excess lymph fluid under skin
High levels of amniotic fluid
|Ulnar deviation of finger||
Finger bends toward pinky
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
In general, there are four causes for decreased fetal movement before birth:
- Abnormal development of muscles. In most cases, the specific cause for this cannot be identified. Suspected causes include muscle diseases, maternal fever during pregnancy, and
viruseswhich may damage the cellsthat transmit nerve impulses to the muscles.
- Insufficient room in the uterus for normal movement. For example, multiple fetuses may be present, the mother may lack normal amounts of amniotic fluid or there may be uterine structural abnormalities.
- Malformations of the
central nervous system(the brain 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 can be a component of numerous condition caused by
Some patients, however, have persistent functional difficulties despite a rigorous physical therapy regimen. In these cases, surgery may be recommended to achieve better positioning and increase the range of motion in certain joints. Rarely, tendon transfers have been done to improve muscle function.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
- The American Association of Neuromuscular & Electrodiagnostic Medicine provides information about arthrogryposis multiplex congenita. Click on the link to view this information.
- Arthrogryposis Multiplex Congenita Support, Inc offers an information page on Arthrogryposis multiplex congenita. Please click on the link to access this resource.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Arthrogryposis multiplex congenita.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Arthrogryposis multiplex congenita. Click on the link to view a sample search on this topic.
- Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; https://emedicine.medscape.com/article/941917-overview.
- Hall JG. Arthrogryposis Multiplex Congenita. National Organization for Rare Disorders. February 2013; https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/.
- Arthrogryposis: What it is and how it is treated. A National Support Group for Arthrogryposis Multiplex Congenita (AVENUES). https://www.avenuesforamc.com/publications/pamphlet.htm. Accessed 10/15/2013.