Medication Summary

Drug therapy is not currently a component in the standard of care for this condition. Evidence indicates, however, that genetic mutations associated with endplate components play a role in arthrogryposis and pterygium formation. Acetylcholine treatment, together with physical therapy, seems to elicit a response from some of these pterygium syndromes, the apparent result of causing an increase in endplate function.^[42]

Follow-up

Taricco LD, Aoki SS. Rehabilitation of an adult patient with arthrogryposis multiplex congenita treated with an external fixator. Am J Phys Med Rehabil. 2009 May. 88(5):431-4. [QxMD MEDLINE Link].
Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009 Jul. 91 Suppl 4:40-6. [QxMD MEDLINE Link]. [Full Text].
Hall JG. Genetic aspects of arthrogryposis. Clin Orthop. 1985. 194:44-53. [QxMD MEDLINE Link].
Darin N, Kimber E, Kroksmark AK, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediatr. 2002 Jan. 140(1):61-7. [QxMD MEDLINE Link].
Laitinen O, Hirvensalo M. Arthrogryposis multiplex congenita. Ann Paediatr Fenn. 1966. 12:133-138.
Li Y, Sheng F, Xia C, Xu L, Qiu Y, Zhu Z. Risk Factors of Impaired Pulmonary Function in Arthrogryposis Multiplex Congenital Patients With Concomitant Scoliosis: A Comparison With Adolescent Idiopathic Scoliosis. Spine (Phila Pa 1976). 2018 Apr 15. 43 (8):E456-60. [QxMD MEDLINE Link].
Cirillo A, Collins J, Sawatzky B, Hamdy R, Dahan-Oliel N. Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):436-53. [QxMD MEDLINE Link].
Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. 2007 Jul-Aug. 27(5):594-600. [QxMD MEDLINE Link].
Alves PV, Zhao L, Patel PK, Bolognese AM. Arthrogryposis: diagnosis and therapeutic planning for patients seeking orthodontic treatment or orthognathic surgery. J Craniofac Surg. 2007 Jul. 18(4):838-43. [QxMD MEDLINE Link].
Narkis G, Landau D, Manor E, Ofir R, Birk OS. Genetics of Arthrogryposis: Linkage Analysis Approach. Clin Orthop Relat Res. 2006 Dec 28. [QxMD MEDLINE Link].
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep. 81(3):530-9. [QxMD MEDLINE Link].
Wallach E, Walther-Louvier U, Espil-Taris C, Rivier F, Baudou E, Cances C. Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [QxMD MEDLINE Link].
Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul. 6(3):159-66. [QxMD MEDLINE Link].
Dai S, Dieterich K, Jaeger M, Wuyam B, Jouk PS, Perennou D. Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. Neurology. 2018 May 1. 90 (18):e1596-e1604. [QxMD MEDLINE Link].
Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 1996 Nov 11. 65(4):277-81. [QxMD MEDLINE Link].
Chen H. Multiple Pterygium Syndrome. Atlas of Genetic Diagnosis and Counseling. 2nd. New York Dordrecht Heidelberg London: Springer; 2012. 2: 1479-1485.
Chen H, Chang CH, Misra RP. Multiple pterygium syndrome. Am J Med Genet. 1980. 7(2):91-102. [QxMD MEDLINE Link].
Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am J Dis Child. 1978 Jun. 132(6):609-11. [QxMD MEDLINE Link].
Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. 1984 Apr. 17(4):803-7. [QxMD MEDLINE Link].
Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. 1982 Feb. 11(2):185-239. [QxMD MEDLINE Link].
Entezami M, Runkel S, Kunze J, Weitzel HK, Becker R. Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. Fetal Diagn Ther. 1998 Jan-Feb. 13(1):35-8. [QxMD MEDLINE Link].
Chen H. Fetal Akinesia Sequence. Atlas of Genetic Diagnosis and Counseling. 2nd. New York Dordrecht Heidelberg London: Springer; 2012. 2: 809-821.
Chen H, Immken L, Lachman R. 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. Am J Med Genet. 1984 Apr. 17(4):809-26. [QxMD MEDLINE Link].
Chen H. Freeman-Sheldon Syndrome. Atlas of Genetic Diagnosis and Counseling. 2nd. New York Dordrecht Heidelberg London: Springer; 2012. 2: 883-889.
Wilnai Y, Seaver LH, Enns GM. Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?. Am J Med Genet A. 2012 Sep. 158A (9):2353-7. [QxMD MEDLINE Link].
Chen H, Blumberg B, Immken L. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. 1983 Oct. 16(2):213-24. [QxMD MEDLINE Link].
Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and multiple perinatal fractures. Am J Med Genet. 1995 Feb 13. 55(4):472-7. [QxMD MEDLINE Link].
Hall JG. Analysis of Pena Shokeir phenotype. Am J Med Genet. 1986 Sep. 25(1):99-117. [QxMD MEDLINE Link].
Dicke JM, Piper SL, Goldfarb CA. The utility of ultrasound for the detection of fetal limb abnormalities - a 20-year single-center experience. Prenat Diagn. 2014 Dec 4. [QxMD MEDLINE Link].
Rink BD. Arthrogryposis: a review and approach to prenatal diagnosis. Obstet Gynecol Surv. 2011 Jun. 66(6):369-77. [QxMD MEDLINE Link].
Dimitraki M, Tsikouras P, Bouchlariotou S, Dafopoulos A, Konstantou E, Liberis V. Prenatal assessment of arthrogryposis. A review of the literature. J Matern Fetal Neonatal Med. 2011 Jan. 24(1):32-6. [QxMD MEDLINE Link].
Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [QxMD MEDLINE Link].
Lin IW, Chueh HY, Chang SD, Cheng PJ. The application of three-dimensional ultrasonography in the prenatal diagnosis of arthrogryposis. Taiwan J Obstet Gynecol. 2008 Mar. 47(1):75-8. [QxMD MEDLINE Link].
Ajayi RA, Keen CE, Knott PD. Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy. Prenat Diagn. 1995 Aug. 15(8):762-4. [QxMD MEDLINE Link].
Scott H, Hunter A, Bédard B. Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age. Prenat Diagn. 1999 Oct. 19(10):966-71. [QxMD MEDLINE Link].
Murphy JC, Neale D, Bromley B, Benacerraf BR, Copel JA. Hypoechogenicity of fetal long bones: a new ultrasound marker for arthrogryposis. Prenat Diagn. 2002 Dec. 22(13):1219-22. [QxMD MEDLINE Link].
Hamdy RC, van Bosse H, Altiok H, et al. Treatment and outcomes of arthrogryposis in the lower extremity. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):372-84. [QxMD MEDLINE Link]. [Full Text].
Gagnon M, Caporuscio K, Veilleux LN, Hamdy R, Dahan-Oliel N. Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):410-26. [QxMD MEDLINE Link].
Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983 Dec. 72(6):857-63. [QxMD MEDLINE Link].
Staheli LT, Hall JG, Jaffe K, et al. Arthrogryposis: A Text Atlas. New York: Cambridge University Press; 1998.
Sawatzky B, Jones T, Miller R, Noureai H. The relationship between joint surgery and quality of life in adults with arthrogryposis: an international study. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):469-73. [QxMD MEDLINE Link].
Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 2014 Aug. 57 (8):464-72. [QxMD MEDLINE Link].
Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, Howarth E. Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn. 2010 Jan. 30(1):49-56. [QxMD MEDLINE Link].
Chen H. Arthrogryposis Multiplex Congenita. Atlas of Genetic Diagnosis and Counseling. 2nd. New York Dordrecht Heidelberg London: Springer; 2012. 1: 141-156.
Isaacson G, Drum ET. Difficult airway management in children and young adults with arthrogryposis. World J Otorhinolaryngol Head Neck Surg. 2018 Jun. 4 (2):122-5. [QxMD MEDLINE Link]. [Full Text].
[Guideline] Michaud LJ. Prescribing therapy services for children with motor disabilities. Pediatrics. 2004 Jun. 113(6):1836-8. [QxMD MEDLINE Link].
van Bosse HJP. Orthopaedic care of the child with arthrogryposis: a 2020 overview. Curr Opin Pediatr. 2019 Nov 16. [QxMD MEDLINE Link].
Nouraei H, Sawatzky B, MacGillivray M, Hall J. Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita. Am J Med Genet A. 2017 May. 173 (5):1270-8. [QxMD MEDLINE Link].
Hansen-Jaumard D, Elfassy C, Montpetit K, Ghalimah B, Hamdy R, Dahan-Oliel N. A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita. J Pediatr Rehabil Med. 2020. 13 (3):263-71. [QxMD MEDLINE Link]. [Full Text].
Chareyre J, Neuraz A, Badina A, et al. Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients. J Child Neurol. 2021 Aug 19. 8830738211022972. [QxMD MEDLINE Link].

Media Gallery

An infant with amyoplasia. Note internally rotated and adducted shoulders, fixed extended elbows, pronated forearms, flexed wrists and fingers, and severe talipes deformity.
An infant with distal arthrogryposis type I. Note medially overlapping fingers, tightly clenched fists, and positional foot contractures.
The hands of a patient with contractural arachnodactyly (Beals syndrome). Note the long, thin fingers with interphalangeal joint contractures.
A girl with an autosomal recessive type of multiple pterygium syndrome. Note the multiple joint contractures at the knees with marked pterygia, including intercrural webbing, affecting her stance and ambulation.
A mother and child both affected with trismus pseudocamptodactyly. Note the small mouth (with limited ability to open) and flexion contractures of fingers on dorsiflexion.
Twins with a lethal type of autosomal recessive multiple pterygium syndrome. Note the multiple joint contractures with marked pterygia, cardiac and lung hypoplasia, and characteristic facies.
An infant with a lethal type of multiple pterygium syndrome. Note multiple joint contractures with marked pterygia and a cystic hygroma on the posterior aspect of the head and the neck.
The photograph on the left shows an infant with fetal akinesia. Note depressed nasal bridge, micrognathia, flexion contractures of elbows, bilateral clubhands, and arthrogryposis of fingers. The radiograph on the right shows an infant with fetal akinesia. Note gracile ribs; thin, long bones with multiple fractures at mid diaphyses of the humeri, distal diaphyses of the femora, and proximal diaphyses of both tibiae and left fibula; and clubhands.
An infant with Pena-Shokeir syndrome. Note characteristic facies (ocular hypertelorism; short nose with depressed bridge; small and markedly recessed jaw; low-set, malformed ears), short neck, mild contracture at the hip, moderate contractures at elbows and knees, severe ankle contractures, and camptodactyly with ulnar deviation of the hands.

of 9

Author

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) Consultant Neonatologist, Clinical Director for Neonatal Services, Associate Medical Director (Revalidation), The James Cook University Hospital, South Tees Foundation NHS Trust; UK Chair, Theory MRCPCH Exams, Senior Clinical MRCPCH Examiner, Royal College of Pediatrics and Child Health (UK)

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) is a member of the following medical societies: American Pediatric Society, Society for Pediatric Research, British Association of Perinatal Medicine, British Medical Association, Neonatal Society, Nepal Medical Association, Royal College of Paediatrics and Child Health, Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

Sections Arthrogryposis
Overview
Presentation
- History
- Physical
- Causes
- Show All
DDx
Workup
Treatment
Medication
Follow-up
Questions & Answers
Media Gallery
References

Arthrogryposis Medication

Medication Summary

References

Tables

Contributor Information and Disclosures

What would you like to print?