Arthrogryposis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Classification

Some of the different types of AMC include:

  • Arthrogryposis multiplex due to muscular dystrophy.[1][2]
  • Arthrogryposis ectodermal dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome.[3][4]
  • Arthrogryposis epileptic seizures migrational brain disorder.[5]
  • Arthrogryposis IUGR thoracic dystrophy,also known as Van Bervliet syndrome.[6][7]
  • Arthrogryposis like disorder, also known as Kuskokwim disease.[8]
  • Arthrogryposis-like hand anomaly and sensorineural deafness.[9][10]
  • Arthrogryposis multiplex congenita CNS calcification.[11]
  • Arthrogryposis multiplex congenita distal (AMCD)[12], with a large number of synonyms such as Arthrogryposis multiplex congenita, distal, x-linked (AMCX1)[13][14]and Arthrogryposis spinal muscular atrophy[15][16][17]
  • Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.[18]
  • Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.[19]
  • Arthrogryposis multiplex congenita neurogenic type (AMCN).[20] This particular type of AMC has been linked to the AMCN gene on locus 5q35.[21][22] Its mode of inheritance follows the Autosomal recessive patern.[23]
  • Arthrogryposis multiplex congenita pulmonary hypoplasia, also with a large number of synonyms.[24][25]
  • Arthrogryposis multiplex congenita whistling face, also known as Illum syndrome.[26][27][28][29]
  • Arthrogryposis multiplex congenita, distal type 1 (AMCD1).[30]
  • Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.[31][32][33]
  • Arthrogryposis renal dysfunction cholestasis syndrome, also known as ARC Syndrome.[34][35]

References

  1. http://pediatrics.aappublications.org/cgi/content/abstract/22/5/875
  2. Banker B, Victor M, Adams R (1957). "Arthrogryposis multiplex due to congenital muscular dystrophy". Brain. 80 (3): 319–34. PMID 13471804.
  3. Arthrogryposis and ectodermal dysplasia at NIH's Office of Rare Diseases
  4. Stoll C, Alembik Y, Finck S, Janser B (1992). "Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters". Genet. Couns. 3 (1): 35–9. PMID 1590979.
  5. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1139
  6. http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1156
  7. Arthrogryposis IUGR thoracic dystrophy at NIH's Office of Rare Diseases
  8. http://ctd.mdibl.org/detail.go?type=disease&acc=208200
  9. http://ctd.mdibl.org/detail.go?type=disease&acc=108200
  10. Arthrogryposis-like hand anomaly and sensorineural deafness at NIH's Office of Rare Diseases
  11. Arthrogryposis multiplex congenita CNS calcification at NIH's Office of Rare Diseases
  12. http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Distal
  13. http://ctd.mdibl.org/detail.go?type=disease&acc=301830
  14. http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Distal,+X-Linked
  15. Online Mendelian Inheritance in Man (OMIM) 301830
  16. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1141
  17. http://cat.inist.fr/?aModele=afficheN&cpsidt=16634238
  18. http://www.peacehealth.org/kbase/nord/nord507.htm
  19. http://www.medinet.lk/journals/CMJ/2001/december/arthrogryposis.htm
  20. http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Neurogenic+Type
  21. http://ctd.mdibl.org/detail.go?view=gene&type=disease&acc=208100
  22. http://ctd.mdibl.org/detail.go?type=disease&acc=208100
  23. Rosenmann A, Arad I (1974). "Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance". J. Med. Genet. 11 (1): 91–4. PMID 4837288.
  24. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=994
  25. Leichtman L, Say B, Barber N (1980). "Primary pulmonary hypoplasia and arthrogryposis multiplex congenita". J. Pediatr. 96 (5): 950–1. PMID 7365612.
  26. Illum N, Reske-Nielsen E, Skovby F, Askjaer S, Bernsen A (1988). "Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system". Neuropediatrics. 19 (4): 186–92. PMID 3205375.
  27. http://ctd.mdibl.org/detail.go?type=disease&acc=208155
  28. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1150
  29. Arthrogryposis multiplex congenita whistling face at NIH's Office of Rare Diseases
  30. Arthrogryposis multiplex congenita at NIH's Office of Rare Diseases
  31. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1154
  32. Arthrogryposis ophthalmoplegia retinopathy at NIH's Office of Rare Diseases
  33. Schrander-Stumpel C, Höweler C, Reekers A, De Smet N, Hall J, Fryns J (1993). "Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis". J. Med. Genet. 30 (1): 78–80. PMID 8423615.
  34. Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C (1995). "Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families". Eur. J. Pediatr. 154 (10): 835–9. PMID 8529684.
  35. Arthrogryposis renal dysfunction cholestasis syndrome at NIH's Office of Rare Diseases



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