Rare Diseases Types What Is Arthrogryposis? A Rare Congenital Defect of the Joints By Mary Kugler, RN Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Updated on June 04, 2022 Medically reviewed by Kashif J. Piracha, MD Medically reviewed by Kashif J. Piracha, MD LinkedIn Kashif J. Piracha, MD, is board-certified in internal medicine and nephrology. He has an active clinical practice at Methodist Willowbrook Hospital in Houston, Texas. Learn about our Medical Expert Board Print Table of Contents View All Table of Contents Is Arthrogryposis Rare? Causes Symptoms Diagnosis Treatment Prognosis Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a disorder characterized by the development of multiple joint contractures throughout the body during fetal development. A contracture occurs when a joint becomes stiff and fixed in a bent or straight position, limiting movement of that joint. Why AMC happens is not fully understood, although some arthrogryposis causes are known. Others, including genetic influences, remain under study. This article explains arthrogryposis, some potential causes for the disorder, and its symptoms. It will help you to understand how AMC is diagnosed and treated, as well as what to know during pregnancy. Photodisc/DigitalVision Is Arthrogryposis Rare? Arthrogryposis develops before birth (it is a congenital defect) and in the U.S., it occurs about once per every 3,000 to 5,000 live births, affecting both males and females of all ethnic backgrounds. More than one body part has to be affected for the disorder to be referred to as arthrogryposis multiplex congenita (AMC). Clubfoot, for example, is a congenital contracture affecting only the foot. It is an isolated congenital contracture and not arthrogryposis. There are more than 150 types of AMC, with amyoplasia being the most common and accounting for more than 40% of all AMC cases. Arthrogryposis Causes Arthrogryposis is usually caused by decreased fetal movements in the womb. The fetus needs movement in the limbs to develop muscle and joints. If the joints don't move, extra connective tissue develops around the joint and fixes it in place. Some of the causes of decreased fetal movements are: Malformations or malfunctions of the central nervous system, such as spina bifida, brain malformations, or spinal muscular atrophy An inherited neuromuscular disorder such as myotonic dystrophy, myasthenia gravis, or multiple sclerosis Maternal infections during pregnancy such as German measles (rubella) or rubeola Maternal fever above 102.2 Fahrenheit for an extended period, or increased maternal body temperature caused by prolonged soaking in hot tubs Maternal exposure to substances that can cross the placenta and harm the fetus, such as drugs, alcohol, or an anti-seizure medication called phenytoin (Dilantin) Too little amniotic fluid or chronic leaking of amniotic fluid, which may limit space for the fetus to move around What Is Intrauterine Growth Restriction (IUGR)? Symptoms of Arthrogryposis The particular joint contractures found in an infant with arthrogryposis vary from child to child, but there are several common characteristics: The legs and arms are affected, with wrists and ankles being the most deformed (think of the fetus folded up inside the uterus, then locked in that position)The joints in the legs and arms may not be able to move at allMuscles in the legs and arms are thin and weak or even absentThe hips may be dislocated Some infants with arthrogryposis have facial deformities, a curvature of the spine, genital deformities, cardiac and respiratory problems, and skin defects. Diagnosing Arthrogryposis Making a diagnosis of arthrogryposis multiplex congenita (AMC) is difficult when a fetus is still developing. There is no prenatal test for the disorder. Some AMC changes may be detected during ultrasound examinations, but the majority of them (about three-fourths) can be seen only after 24 weeks of gestation. However, people with a history of AMC during previous pregnancies can be monitored more closely. There is a genetic link in some but not most cases. An obstetrician-gynecologist (OB-GYN) may recommend genetic testing as part of a diagnosis in specific cases. An AMC diagnosis is confirmed when a newborn has joint contractures in two or more places. Part of the diagnosis will include testing for other conditions that may be the cause, or related to, the development of AMC, including brain, heart, and eye disorders. Some of these conditions will involve severe and potentially fatal outcomes, including stillbirth, but many children who receive treatment for AMC will have generally normal life expectancy. Researchers continue to refine their understanding of AMC and related disorders, as well as advanced ultrasound techniques to assess mobility and muscle and bone development in the fetus. Arthrogryposis Treatment Arthrogryposis cannot be cured, but treatment is directed towards specific symptoms. For example, early vigorous physical therapy can help stretch out the contracted joints and develop the weak muscles. Splints can also help stretch joints, especially at night. Orthopedic surgery may also be able to relieve or correct joint problems. Ultrasound or computed tomography (CT) scans can identify any central nervous system or other abnormalities. These may require surgery to treat, such as congenital heart defects that may need to be repaired. Keep in mind that AMC is not a progressive disease. This means it will not get worse over time, and people born with it often experience lives that are full, self-sufficient and successful. In fact, one long-term study of 65 adults born with AMC found that 38 of them went to college, the same number were married, 34 had children of their own, and only 10 lived lives that were fully dependent on others. What Is Congenital Heart Disease? Arthrogryposis Prognosis The lifespan of an individual with arthrogryposis is usually normal but may be altered by heart defects or central nervous system problems. In general, the prognosis for children with amyoplasia is good, though most children require intensive therapy for years. Almost two-thirds are eventually able to walk (with or without braces) and attend school. 10 Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Kowalczyk B, Feluś J. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Arch Med Sci. 2016;12(1):10-24. doi:10.5114/aoms.2016.57578 Sucuoglu H, Ornek NI, Caglar C. Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures. Case Rep Med. 2015;2015:379730. doi:10.1155/2015/379730 Johns Hopkins Medicine. Arthrogryposis. American College of Obstetricians and Gynecologists. Reducing Risks of Birth Defects. Binkiewicz-glinska A, Sobierajska-rek A, Bakula S, et al. Arthrogryposis in infancy, multidisciplinary approach: case report. BMC Pediatr. 2013;13:184. doi:10.1186/1471-2431-13-184 Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, et al. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. National Organization for Rare Disorders (NORD). Arthrogryposis Multiplex Congenita. Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, et al. Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study. Prenat Diagn. 2019 Feb;39(3):219-231. doi:10.1002/pd.5411. Dubousset J, Guillaumat M. Long-term outcome for patients with arthrogryposis multiplex congenita. J Child Orthop. 2015 Dec;9(6):449-58. doi:10.1007/s11832-015-0692-6. By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. See Our Editorial Process Meet Our Medical Expert Board Share Feedback Was this page helpful? Thanks for your feedback! What is your feedback? Other Helpful Report an Error Submit