eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Arthrogryposis: Follow-up

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Jul 28, 2009

Follow-up

Further Inpatient Care

  • Admit the patient for surgical intervention.

Further Outpatient Care

  • Carefully monitor the patient, watching for postoperative complications.

Transfer

  • Patients may need to be transferred for further diagnostic evaluation and surgical intervention.

Deterrence/Prevention

  • Recurrence risk depends on whether the contractures are extrinsically or intrinsically derived. Extrinsically derived contractures have a low recurrence risk, whereas the recurrence risk for intrinsically derived contractures depends on etiology. Arthrogryposis may be inherited in the following ways with different recurrence risks, and the patient and parents should know this information:
    • Autosomal dominant: Recurrence risk to offspring is 50% (eg, distal arthrogryposis).
    • Autosomal recessive: Recurrence risk to offspring is 25%, and both parents are obligatory carriers (eg, lethal multiple pterygium syndrome).
    • X-linked recessive: All daughters of affected males are carriers. Their sons have a 50% chance of being affected, and their daughters have a 50% chance of being carriers (eg, severe lethal, moderately severe, and resolving types of X-linked arthrogryposis).
    • Multifactorial: Combined effects of multiple genes and environmental factors cause multifactorial traits. For most multifactorial diseases, empirical risks (risks based on direct observation of data) have been derived. For example, empirical recurrence risks of neural tube defects for siblings of an affected individual range from 2-5% in most populations.
    • Mitochondrial: A small but significant number of diseases are caused by mitochondrial mutations. Because of the unique properties of mitochondria, these diseases display characteristic modes of inheritance (ie, inherited exclusively through the maternal line) and wide phenotypic variability. Only females can transmit the disease mutation to their offspring (eg, distal type IIB arthrogryposis).
  • Sporadic: For families in which a specific diagnosis cannot be made, the empiric recurrence risk to unaffected parents of an affected child, or to the affected individual with arthrogryposis, ranges from 3-5%.

Complications

  • The most common perioperative issues include difficulties with airway management, problematic intravenous access, and intraoperative hyperthermia.
  • Anesthesia can be difficult because vascular access is often restricted.
  • Intubation may pose problems for patients with a small underdeveloped jaw, limited movement of the temporomandibular joint, or a narrow airway.
  • Osseous hypoplasia, which is associated with decreased mechanical use in developing bone, is prone to fracture at multiple sites. Multiple perinatal fractures have been observed in osteopenic bones.

Prognosis

  • In neonates, ventilator dependence is associated with a poor prognosis. Prenatal factors that potentially predict respiratory insufficiency include decreased fetal movements, polyhydramnios, micrognathia, and thin ribs. Developmental milestones often are delayed because of limitations of movement.
  • Some patients develop skeletal changes secondary to the original deformities; these may include scoliosis and deformed carpal and tarsal bones, and they worsen the patient's overall condition. Limbs may undergrow after long-standing contractures. External genitalia are often abnormal (eg, cryptorchidism, absent labia majora) because of abnormal hip position.
  • Prognosis depends on whether defects are intrinsically or extrinsically derived. Extrinsically derived contractures carry an excellent prognosis, whereas intrinsically derived contractures carry a prognosis that depends on the etiology.
  • Prognosis also depends on the condition's natural history and the patient's response to therapy.
    • Natural history
      • Developmental landmarks (attainment of motor, social, and language milestones)
      • Growth of affected limbs
      • Progression of contractures
      • CNS damage (lethal, stable, improving)
      • Asymmetry of contractures (improving, worsening)
      • Changes in trunk or limbs
      • Intellectual ability
      • Socialization
    • Response to therapies
      • Spontaneous improvement
      • Response to physical therapy
      • Response to casting
      • Types of surgery at appropriate time
      • Development of motor strength proportionate to limb size26
  • Despite severe handicaps, the prognosis for most children with normal intelligence may be good enough to allow for independent, productive lives. However, many remain partially dependent on others, such as parents, relatives, and government subsidy. Dependency is related more closely to personality, education, and overall coping skills than to the degree of physical deformity.
  • Properly sequenced corrective surgical procedures are required to maximize musculoskeletal function.
  • In addition to appropriate surgical correction, good family support, a proper educational environment, and promotion of independence at an early age are required to achieve maximal function.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Anesthesia should be carefully administered because patients who have a rare form of arthrogryposis are prone to having malignant hyperthermia.
  • Physical therapy in diastrophic dysplasia may lead to joint ankylosis.
  • Refer the patient to clinical geneticists and physicians (especially orthopedists) who are experienced in treating arthrogryposis to ensure that the patient receives proper diagnosis, genetic counseling, and management of contractures.

Special Concerns

  • Family members should make sure the patient can perform hygienic necessities because extension contractures of elbow joints may make this difficult.
 


More on Arthrogryposis

Overview: Arthrogryposis
Differential Diagnoses & Workup: Arthrogryposis
Treatment & Medication: Arthrogryposis
Follow-up: Arthrogryposis
Multimedia: Arthrogryposis
References
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References

  1. Taricco LD, Aoki SS. Rehabilitation of an adult patient with arthrogryposis multiplex congenita treated with an external fixator. Am J Phys Med Rehabil. May 2009;88(5):431-4. [Medline].

  2. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. Jul 2009;91 Suppl 4:40-6. [Medline].

  3. Hall JG. Genetic aspects of arthrogryposis. Clin Orthop. 1985;194:44-53. [Medline].

  4. Darin N, Kimber E, Kroksmark AK, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediatr. Jan 2002;140(1):61-7. [Medline].

  5. Laitinen O, Hirvensalo M. Arthrogryposis multiplex congenita. Ann Paediatr Fenn. 1966;12:133-138.

  6. Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. Jul-Aug 2007;27(5):594-600. [Medline].

  7. Alves PV, Zhao L, Patel PK, Bolognese AM. Arthrogryposis: diagnosis and therapeutic planning for patients seeking orthodontic treatment or orthognathic surgery. J Craniofac Surg. Jul 2007;18(4):838-43. [Medline].

  8. Narkis G, Landau D, Manor E, Ofir R, Birk OS. Genetics of Arthrogryposis: Linkage Analysis Approach. Clin Orthop Relat Res. Dec 28 2006;[Medline].

  9. 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. Sep 2007;81(3):530-9. [Medline].

  10. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. Jul 1997;6(3):159-66. [Medline].

  11. Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. Nov 11 1996;65(4):277-81. [Medline].

  12. Chen H. Multiple Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:702-7.

  13. Chen H, Chang CH, Misra RP. Multiple pterygium syndrome. Am J Med Genet. 1980;7(2):91-102. [Medline].

  14. Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am J Dis Child. Jun 1978;132(6):609-11. [Medline].

  15. Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. Apr 1984;17(4):803-7. [Medline].

  16. Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. Feb 1982;11(2):185-239. [Medline].

  17. 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. Jan-Feb 1998;13(1):35-8. [Medline].

  18. Chen H. Fetal Akinesia Sequence. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:398-402.

  19. 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. Apr 1984;17(4):809-26. [Medline].

  20. Chen H. Freeman-Sheldon Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:427-30.

  21. Chen H, Blumberg B, Immken L. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. Oct 1983;16(2):213-24. [Medline].

  22. Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and multiple perinatal fractures. Am J Med Genet. Feb 13 1995;55(4):472-7. [Medline].

  23. Hall JG. Analysis of Pena Shokeir phenotype. Am J Med Genet. Sep 1986;25(1):99-117. [Medline].

  24. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. Dec 1983;72(6):857-63. [Medline].

  25. Staheli LT, Hall JG, Jaffe K, et al. Arthrogryposis: A Text Atlas. New York: Cambridge University Press; 1998.

  26. [Guideline] Michaud LJ. Prescribing therapy services for children with motor disabilities. Pediatrics. Jun 2004;113(6):1836-8. [Medline].

  27. Atkins RM, Bell MJ, Sharrard WJ. Pectoralis major transfer for paralysis of elbow flexion in children. J Bone Joint Surg [Br]. Aug 1985;67(4):640-4. [Medline].

  28. Axt MW, Niethard FU, Doderlein L. Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. J Pediatr Orthop B. Jul 1997;6(3):179-85. [Medline].

  29. Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet. Nov 11 1996;65(4):282-5. [Medline].

  30. Banker BQ. Neuropathologic aspects of arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):30-43. [Medline].

  31. Baty BJ, Cubberley D, Morris C, Carey J. Prenatal diagnosis of distal arthrogryposis. Am J Med Genet. Mar 1988;29(3):501-10. [Medline].

  32. Bayne LG. Hand assessment and management of arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):68-73. [Medline].

  33. Beals RK. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res. Jun 2005;203-10. [Medline].

  34. Bennett JB, Hansen PE, Granberry WM. Surgical management of arthrogryposis in the upper extremity. J Pediatr Orthop. May-Jun 1985;5(3):281-6. [Medline].

  35. Bianchi DW, Van Marter LJ. An approach to ventilator-dependent neonates with arthrogryposis. Pediatrics. 1994;94:682-686. [Medline].

  36. Bui TH, Lindholm H, Demir N, Thomassen P. Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. Prenat Diagn. Dec 1992;12(12):1047-53. [Medline].

  37. Carlson WO, Speck GJ, Vicari V. Arthrogryposis multiplex congenita. A long-term follow-up study. Clin Orthop. Apr 1985;(194):115-23. [Medline].

  38. Chen H. Arthrogryposis Multiplex Congenita. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press; 2006:74-83.

  39. Chen H. Lethal Multiple Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:604-12.

  40. Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and multiple perinatal fractures. Am J Med Genet. Feb 13 1995;55(4):472-7. [Medline].

  41. Chen H, Blumberg B, Immken L, Lachman R, Rightmire D, Fowler M. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. Oct 1983;16(2):213-24. [Medline].

  42. Dudkiewicz I, Achiron R, Ganel A. Prenatal diagnosis of distalarthrogryposis type 1. Skeletal Radiol. 1999;28:233–235.

  43. Gericke GS, Hall JG, Nelson MM, Beighton PH. Diagnostic considerations in arthrogryposis syndromes in South Africa. Clin Genet. Feb 1984;25(2):155-62. [Medline].

  44. Gordon N. Arthrogryposis multiplex congenita. Brain Dev. Oct 1998;20(7):507-511. [Medline].

  45. Guidera KJ, Drennan JC. Foot and ankle deformities in arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):93-8. [Medline].

  46. Hahn G. Arthrogryposis. Pediatric review and habilitative aspects. Clin Orthop. Apr 1985;(194):104-14. [Medline].

  47. Hall JG. An approach to congenital contractures (arthrogryposis). Pediatr Ann. Jul 1981;DA - 19811025(7):15-26. [Medline].

  48. Hall JG. An approach to research on congenital contractures. Birth Defects Orig Artic Ser. 1984;20(6):8-30. [Medline].

  49. Hall JG. Arthrogryposes (multiple congenital contractures). In: Principles and Practice of Medical Genetics. Vol 2. 1990:989-1035.

  50. Hall JG. Re: distal arthrogryposis in two sisters born to different fathers [Hwu etal. 2004. Am J Med Genet 125A:100-101.]. Am J Med Genet A. Aug 1 2005;136(4):415. [Medline].

  51. Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. Apr 1984;17(4):803-7. [Medline].

  52. Hall JG, Reed SD, Driscoll EP. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. Am J Med Genet. Aug 1983;15(4):571-90. [Medline].

  53. Hall JG, Reed SD, McGillivray BC. Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. Am J Med Genet. Aug 1983;15(4):591-9. [Medline].

  54. Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM. Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet. Aug 1982;12(4):377-409. [Medline].

  55. Hall JG, Reed SD, Scott CI. Three distinct types of X-linked arthrogryposis seen in 6 families. Clin Genet. Feb 1982;21(2):81-97. [Medline].

  56. Huurman WW, Jacobsen ST. The hip in arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):81-6. [Medline].

  57. Hwu WL, Chien YH, Hsu CC. Distal arthrogryposis in two sisters born to different fathers. Am J Med Genet A. Feb 15 2004;125(1):100-1. [Medline].

  58. Jiang M, Bian C, Li X, Man X, Ge W, Han W. Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. Prenat Diagn. May 2007;27(5):468-70. [Medline].

  59. Jiang M, Zhao X, Han W, Bian C, Li X, Wang G. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet. Sep 2006;120(2):238-42. [Medline].

  60. Kroksmark AK, Kimber E, Jerre R, Beckung E, Tulinius M. Muscle involvement and motor function in amyoplasia. Am J Med Genet Part A. Aug 15 2006;140(16):1757-67. [Medline].

  61. Letts M, Davidson D. The role of bilateral talectomy in the management of bilateral rigid clubfeet. Am J Orthop. Feb 1999;28(2):106-10. [Medline].

  62. Letts M, Davidson D. The role of bilateral talectomy in the management of bilateral rigid clubfeet. Am J Orthop. Feb 1999;28(2):106-10. [Medline].

  63. McGillivray K, Watson AJ. Congenital arthrogryposis in pregnancy. J Obstet Gynaecol. Mar 2002;22(2):218-9. [Medline].

  64. Mennen U. Arthrogryposis multiplex congenita: functional classification and the AMC disc-o-gram. J Hand Surg [Br]. Aug 2004;29(4):363-7. [Medline].

  65. Mennen U, van Heest A, Ezaki MB. Arthrogryposis multiplex congenita. J Hand Surg [Br]. Oct 2005;30(5):468-74. [Medline].

  66. Mennen U, van Heest A, Ezaki MB, Tonkin M, Gericke G. Arthrogryposis multiplex congenita. J Hand Surg [Br]. Oct 2005;30(5):468-74. [Medline].

  67. Moerman P, Fryns JP. The fetal akinesia deformation sequence. A fetopathological approach. Genet Couns. 1990;1(1):25-33. [Medline].

  68. Murray C, Fixsen JA. Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). J Pediatr Orthop B. Jul 1997;6(3):186-91. [Medline].

  69. Palmer PM, MacEwen GD, Bowen JR, Mathews PA. Passive motion therapy for infants with arthrogryposis. Clin Orthop Relat Res. Apr 1985;(194):54-9. [Medline].

  70. Porter HJ. Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). Pediatr Pathol Lab Med. Jul-Aug 1995;15(4):617-37. [Medline].

  71. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics. Feb 1996;97(2):225-31. [Medline].

  72. Shrimpton AE, Hoo JJ. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet. Mar-Apr 2006;49(2):201-6. [Medline].

  73. Sodergard J, Hakamies-Blomqvist L, Sainio K. Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome. J Pediatr Orthop B. Jul 1997;6(3):167-71. [Medline].

  74. St Clair HS, Zimbler S. A plan of management and treatment results in the arthrogrypotic hip. Clin Orthop Relat Res. Apr 1985;(194):74-80. [Medline].

  75. Staheli LT, Chew DE, Elliott JS. Management of hip dislocations in children with arthrogryposis. J Pediatr Orthop. Nov-Dec 1987;7(6):681-5. [Medline].

  76. Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. Mar 2003;72(3):681-90. [Medline].

  77. Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. Jul 2003;73(1):212-4. [Medline].

  78. Thomas B, Schopler S, Wood W, Oppenheim WL. The knee in arthrogryposis. Clin Orthop Relat Res. Apr 1985;(194):87-92. [Medline].

  79. Thompson GH, Bilenker RM. Comprehensive management of arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):6-14. [Medline].

  80. Williams PF. Management of upper limb problems in arthrogryposis. Clin Orthop Relat Res. Apr 1985;(194):60-7. [Medline].

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Further Reading

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Keywords

arthrogryposis multiplex congenita, AMC, multiple congenital contractures, multiple congenital joint contractures, fetal akinesia, decreased fetal movements, development of extra connective tissue, fixation of the joint, joint fixation, scoliosis, limb dysfunction, joint deformity, limb malformations, amyoplasia, distal arthrogryposes, Gordon syndrome, Pierre-Robin syndrome, Möbius syndrome, trisomy 18, Zellweger syndrome, Meckel-Gruber syndrome, anencephaly, Werdnig-Hoffmann disease, central core disease, nemaline myopathy, myoneural junction abnormality, congenital myasthenia gravis, diastrophic dysplasia, X-linked arthrogryposis, hyperextensibility, dislocated joints, myotonic dystrophy, myasthenia gravis, multiple sclerosis, rubella, rubeola, coxsackievirus, enterovirus, Akabane, maternal hyperthermia, oligohydramnios, chronic amniotic fluid leakage, lethal multiple pterygium syndrome, treatment, diagnosis

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

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 Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Hagop Youssoufian, MD, MSc, Vice President of Clinical Research, ImClone Systems Incorporated
Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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