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
- ↑ http://pediatrics.aappublications.org/cgi/content/abstract/22/5/875
- ↑ Banker B, Victor M, Adams R (1957). "Arthrogryposis multiplex due to congenital muscular dystrophy". Brain. 80 (3): 319–34. PMID 13471804.
- ↑ Template:RareDiseases
- ↑ 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.
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1139
- ↑ http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1156
- ↑ Template:RareDiseases
- ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=208200
- ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=108200
- ↑ Template:RareDiseases
- ↑ Template:RareDiseases
- ↑ http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Distal
- ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=301830
- ↑ http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Distal,+X-Linked
- ↑ Online Mendelian Inheritance in Man (OMIM) 301830
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1141
- ↑ http://cat.inist.fr/?aModele=afficheN&cpsidt=16634238
- ↑ http://www.peacehealth.org/kbase/nord/nord507.htm
- ↑ http://www.medinet.lk/journals/CMJ/2001/december/arthrogryposis.htm
- ↑ http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Neurogenic+Type
- ↑ http://ctd.mdibl.org/detail.go?view=gene&type=disease&acc=208100
- ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=208100
- ↑ Rosenmann A, Arad I (1974). "Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance". J. Med. Genet. 11 (1): 91–4. PMID 4837288.
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=994
- ↑ Leichtman L, Say B, Barber N (1980). "Primary pulmonary hypoplasia and arthrogryposis multiplex congenita". J. Pediatr. 96 (5): 950–1. PMID 7365612.
- ↑ 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.
- ↑ http://ctd.mdibl.org/detail.go?type=disease&acc=208155
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1150
- ↑ Template:RareDiseases
- ↑ Template:RareDiseases
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1154
- ↑ Template:RareDiseases
- ↑ 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.
- ↑ 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.
- ↑ Template:RareDiseases