Skip to main content
SpringerLink
Log in

Arthrogryposis Multiplex Congenita

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 669 Accesses

Abstract

Arthrogryposis multiplex congenita comprises nonprogressive conditions characterized by multiple joint contractures throughout the body at birth. The term encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. The overall prevalence of arthrogryposis is approximately 1 in 3,000 live births (Hall 1985a, b; Fahy and Hall 1990).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Axt, M. W., Niethard, F. U., Doderlein, L., et al. (1997). Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. Journal of Pediatric Orthopedics, 6, 179–185.

    Article  PubMed  CAS  Google Scholar 

  • Bamshad, M., van Heest, A. E., & Pleasure, D. (2009). Arthrogryposis: A review and update. The Journal of Bone Joint Surgery American, 91, 40–46.

    Article  Google Scholar 

  • Bamshed, M., Jorde, L. B., & Carey, J. C. (1996). A revised and extended classification of the distal arthrogryposes. American Journal of Medical Genetics, 65, 277–281.

    Article  Google Scholar 

  • Banker, B. Q. (1985). Neuropathologic aspects of arthrogryposis multiplex congenita. Clinical Orthopaedics, 194, 30–43.

    Google Scholar 

  • Banker, B. Q. (1986). Arthrogryposis multiplex congenita: Spectrum of pathologic changes. Human Pathology, 17, 656–672.

    Article  PubMed  CAS  Google Scholar 

  • Baty, B. J., Cubberley, D., Morris, C., et al. (1988). Prenatal diagnosis of distal arthrogryposis. American Journal of Medical Genetics, 29, 501–510.

    Article  PubMed  CAS  Google Scholar 

  • Bayne, L. G. (1985). Hand assessment and management of arthrogryposis multiplex congenita. Clinical Orthopaedics, 194, 68–73.

    Google Scholar 

  • Bendon, R., Dignan, P., & Siddiqi, T. (1987). Prenatal diagnosis of arthrogryposis multiplex congenita. Journal of Pediatrics, 111, 942–947.

    Article  PubMed  CAS  Google Scholar 

  • Bennett, J. B., Hansen, P. E., Granberry, W. M., et al. (1985). Surgical management of arthrogryposis in the upper extremity. Journal of Pediatric Orthopedics, 5, 281–286.

    Article  PubMed  CAS  Google Scholar 

  • Bevan, W. P., Hall, J. G., Bamshad, M., et al. (2007). Arthrogryposis multiplex congenita (amyoplasia): An orthopaedic perspective. Journal of Pediatric Orthopedics, 27, 594–600.

    Article  PubMed  Google Scholar 

  • Bianchi, D. W., & Van Marter, L. J. (1994). An approach to ventilator-dependent neonates with arthrogryposis. Pediatrics, 94, 682–686.

    PubMed  CAS  Google Scholar 

  • Carlson, W. O., Speck, G. J., Vicari, V., et al. (1985). Arthrogryposis multiplex congenita. A long-term follow-up study. Clinical Orthopaedics, 194, 115–123.

    Google Scholar 

  • Chen, H. (2015). Arthrogryposis. Medscape reference. Updated 2 Mar 2015. Available at: http://emedicine.medscape.com/article/941917-overview

  • Chen, H., Chang, C. H., Misra, R. P., et al. (1980). Multiple pterygium syndrome. American Journal of Medical Genetics, 7, 91–102.

    Article  PubMed  CAS  Google Scholar 

  • Chen, H., Blumberg, B., & Immken, L. (1983). The Pena-Shokeir syndrome: Report of five cases and further delineation of the syndrome. American Journal of Medical Genetics, 16, 213–224.

    Article  PubMed  CAS  Google Scholar 

  • Chen, H., Immken, L., Lachman, R., et al. (1984). Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome. American Journal of Medical Genetics, 17, 809–826.

    Article  PubMed  CAS  Google Scholar 

  • Daly, S. B., Shah, H., O’Sullivan, J., et al. (2014). Exome sequencing identifies a dominant TNNT3 mutation in a large family with distal arthrogryposis. Molecular Syndromology, 5, 218–228.

    PubMed  CAS  PubMed Central  Google Scholar 

  • Dimitraki, M., Tsikouras, P., Bouchlariotou, S., et al. (2011). Prenatal assessment of arthrogryposis. A review of the literature. The Journal of Maternal-Fetal and Neonatal Medicine, 24, 32–36.

    Article  PubMed  Google Scholar 

  • Entezami, M., Runkel, S., Kunze, J., et al. (1998). Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. Fetal Diagnosis and Therapy, 13, 35–38.

    Article  PubMed  CAS  Google Scholar 

  • Escobar, V., Bixler, D., Gleiser, S., et al. (1978). Multiple pterygium syndrome. American Journal of Diseases of Children, 132, 609–611.

    PubMed  CAS  Google Scholar 

  • Fahy, M. J., & Hall, J. G. (1990). A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Genetic Counseling, 1, 3–11.

    PubMed  CAS  Google Scholar 

  • Gordon, N. (1998). Arthrogryposis multiplex congenita. Brain & Development, 20, 507–511.

    Article  CAS  Google Scholar 

  • Guidera, K. J., & Drennan, J. C. (1985). Foot and ankle deformities in arthrogryposis multiplex congenita. Clinical Orthopaedics, 194, 93–98.

    Google Scholar 

  • Hageman, G., Ippel, E. P. F., Beemer, F. A., et al. (1988). The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases. American Journal of Medical Genetics, 30, 883–904.

    Article  PubMed  CAS  Google Scholar 

  • Hahn, G. (1985). Arthrogryposis. Pediatric review and habilitative aspects. Clinical Orthopaedics, 194, 104–114.

    Google Scholar 

  • Hall, J. G. (1981). An approach to congenital contractures (arthrogryposis). Pediatric Annals, 10, 15–26.

    PubMed  CAS  Google Scholar 

  • Hall, J. C. (1984a). An approach to research on congenital contractures. Birth Defects Original Article Series, 20(6), 8–30.

    PubMed  CAS  Google Scholar 

  • Hall, J. G. (1984b). Craniofacial development in arthrogryposis (congenital contractures). Birth Defects Original Article Series, 20, 99–111.

    PubMed  CAS  Google Scholar 

  • Hall, J. G. (1984c). The lethal multiple pterygium syndromes. American Journal of Medical Genetics, 17, 803–807.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G. (1985a). Genetic aspects of arthrogryposis. Clinical Orthopaedics, 194, 44–53.

    Google Scholar 

  • Hall, J. G. (1985b). In utero movement and use of limbs are necessary for normal growth: A study of individuals with arthrogryposis. Progress in Clinical and Biological Research, 200, 155–162.

    PubMed  CAS  Google Scholar 

  • Hall, J. G. (1986). Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). Pathologica, 78, 701–708.

    PubMed  CAS  Google Scholar 

  • Hall, J. G. (1989). Arthrogryposis. American Family Physician, 39, 113–119.

    PubMed  CAS  Google Scholar 

  • Hall, J. G. (1996). Arthrogryposis associated with unsuccessful attempts at termination of pregnancy. American Journal of Medical Genetics, 63, 293–300.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G. (1997). Arthrogryposis multiplex congenita: Etiology, genetics, classification, diagnostic approach, and general aspects. Journal of Pediatric Orthopedics. Part B, 6, 159–166.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G. (2014). Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. American Journal of Medical Genetics, 57, 464–472.

    Google Scholar 

  • Hall, K. W., & Hammock, M. (1979). Feeding and toileting devices for a child with arthrogryposis. American Journal of Occupational Therapy, 33, 644–647.

    PubMed  CAS  Google Scholar 

  • Hall, J. G., Reed, S. D., & Greene, G. (1982a). The distal arthrogryposes: Delineation of new entities-review and nosologic discussion. American Journal of Medical Genetics, 11, 185–239.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G., Reed, S. D., Scott, C. I., et al. (1982b). Three distinct types of X-linked arthrogryposis seen in 6 families. Clinical Genetics, 21, 81–97.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G., Reed, S. D., & Driscoll, E. P. (1983a). Part I. Amyoplasia: A common, sporadic condition with congenital contractures. American Journal of Medical Genetics, 15, 571–590.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G., Reed, S. D., McGillivray, B. C., et al. (1983b). Part II. Amyoplasia: Twinning in amyoplasia-a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. American Journal of Medical Genetics, 15, 591–599.

    Article  PubMed  CAS  Google Scholar 

  • Hall, J. G., Aldinger, K. A., & Tanaka, K. I. (2014). Amyoplasia revisited. American Journal of Medical Genetics. Part A, 164A, 700–730.

    Article  PubMed  Google Scholar 

  • Hall, J. G., Ogranovich, A., Ponten, A., et al. (2015). Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17–19, 2014. American Journal of Medical Genetics. Part A, 167A, 1193–1195.

    Article  Google Scholar 

  • Huurman, W. W., & Jacobsen, S. T. (1985). The hip in arthrogryposis multiplex congenita. Clinical Orthopaedics, 194, 81–86.

    Google Scholar 

  • Letts, M. (1999). The role of bilateral talectomy in the management of bilateral rigid clubfeet. The American Journal of Orthopedics, 28, 106–110.

    PubMed  CAS  Google Scholar 

  • Madazli, R., Tüysüz, B., Aksoy, F., et al. (2002). Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology. Fetal Diagnosis and Therapy, 17, 29–33.

    Article  PubMed  Google Scholar 

  • Moerman, P., & Fryns, J. P. (1990). The fetal akinesia deformation sequence. A fetopathological approach. Genetic Counseling, 1, 25–33.

    PubMed  CAS  Google Scholar 

  • Murray, C., & Fixsen, J. A. (1997). Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). Journal of Pediatric Orthopedics, B-6, 186–191.

    Article  Google Scholar 

  • Palmer, P. M., MacEwen, G. D., Bowen, J. R., et al. (1985). Passive motion therapy for infants with arthrogryposis. Clinical Orthopaedics, 194, 54–59.

    Google Scholar 

  • Porter, H. J. (1995). Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). Pediatric Pathology & Laboratory Medicine, 15, 617–637.

    Article  CAS  Google Scholar 

  • Sarwark, J. F., MacEwen, G. D., & Scott, C. I. (1990). Amyoplasia (a common form of arthrogryposis). The Journal of Bone Joint Surgery, 72-A, 465–469.

    Google Scholar 

  • Sells, J. M., Jaffe, K. M., & Hall, J. G. (1996). Amyoplasia, the most common type of arthrogryposis: The potential for good outcome. Pediatrics, 97, 225–231.

    PubMed  CAS  Google Scholar 

  • SödergÃ¥rd, J., Hakamies-Blomqvist, L., Sainio, K., et al. (1997). Arthrogryposis multiplex congenita: Perinatal and electromyographic findings, disability, and psychosocial outcome. Journal of Pediatric Orthopedics, B-6, 167–171.

    Article  Google Scholar 

  • St. Clair, H. S., & Zimbler, S. (1985). A plan of management and treatment results in the arthrogrypotic hip. Clinical Orthopaedics, 194, 74–80.

    Google Scholar 

  • Staheli, L. T., Chew, D. E., & Elliott, J. S. (1987). Management of hip dislocations in children with arthrogryposis. Journal of Pediatric Orthopedics, 7, 681–685.

    Article  PubMed  CAS  Google Scholar 

  • Swinyard, C. A., & Bleck, E. E. (1985). The etiology of arthrogryposis (multiple congenital contracture). Clinical Orthopaedics and Related Research, 194, 15–29.

    PubMed  Google Scholar 

  • Thomas, B., Schopler, S., & Wood, W. (1985). The knee in arthrogryposis. Clinical Orthopaedics, 194, 87–92.

    Google Scholar 

  • Thompson, G. H., & Bilenker, R. M. (1985). Comprehensive management of arthrogryposis multiplex congenita. Clinical Orthopaedics, 194, 6–14.

    Google Scholar 

  • Toydemir, R. M., & Bamshad, M. J. (2009). Sheldon-Hall syndrome. Orphanet Journal of Rare Diseases, 4, 115–119.

    Article  Google Scholar 

  • Toydemir, R. M., Rutherford, A., Whitby, F. G., et al. (2006). Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genetics, 38, 561–565.

    Article  PubMed  CAS  Google Scholar 

  • Verloes, A., Mulliez, N., Gonzales, M., et al. (1992). Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasia: Three new cases and review of the literature. American Journal of Medical Genetics, 43, 539–547.

    Article  PubMed  CAS  Google Scholar 

  • Williams, P. F. (1985). Management of upper limb problems in arthrogryposis. Clinical Orthopaedics, 194, 60–67.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2015). Arthrogryposis Multiplex Congenita. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_16-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_16-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation