Arthrogryposis classification

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

## Overview

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## Classification

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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

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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.CS1 maint: Multiple names: authors list (link)
3. ↑ Template:RareDiseases
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.CS1 maint: Multiple names: authors list (link)
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. ↑ Template:RareDiseases
8. ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=208200
9. ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=108200
10. ↑ Template:RareDiseases
11. ↑ Template:RareDiseases
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.CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)
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. ↑ Template:RareDiseases
30. ↑ Template:RareDiseases
31. ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1154
32. ↑ Template:RareDiseases
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.CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)
35. ↑ Template:RareDiseases

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