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Arthrogryposis

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome; Finding
Synonyms: Arthrogryposes, congenital multiple; arthrogryposis; congenital multiple Arthrogryposes; congenital multiple arthrogryposis
SNOMED CT: Arthrogryposis (111246005)
 
Monarch Initiative: MONDO:0008779

Definition

A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis
Follow this link to review classifications for Arthrogryposis in Orphanet.

Professional guidelines

PubMed

Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B
Genet Med 2020 Dec;22(12):2029-2040. Epub 2020 Aug 11 doi: 10.1038/s41436-020-0914-2. PMID: 32778822
Filges I, Tercanli S, Hall JG
Am J Med Genet C Semin Med Genet 2019 Sep;181(3):327-336. Epub 2019 Jul 18 doi: 10.1002/ajmg.c.31723. PMID: 31318155

Recent clinical studies

Etiology

Wall LB, Vuillerman C, Miller PE, Bae DS, Goldfarb CA; CoULD Study Group
J Pediatr Orthop 2020 Aug;40(7):357-360. doi: 10.1097/BPO.0000000000001527. PMID: 32040062
Waters J
Neurol Clin 2019 Feb;37(1):113-120. doi: 10.1016/j.ncl.2018.09.003. PMID: 30470270
Hall JG, Kimber E, van Bosse HJP
J Pediatr Orthop 2017 Jul/Aug;37 Suppl 1:S4-S8. doi: 10.1097/BPO.0000000000000997. PMID: 28594686
van Bosse HJ
Foot Ankle Clin 2015 Dec;20(4):619-44. Epub 2015 Oct 21 doi: 10.1016/j.fcl.2015.07.010. PMID: 26589082
Hall JG, Aldinger KA, Tanaka KI
Am J Med Genet A 2014 Mar;164A(3):700-30. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36395. PMID: 24459070

Diagnosis

Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Langston S, Chu A
Pediatr Ann 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01. PMID: 32674167
Attarian S, Fatehi F, Rajabally YA, Pareyson D
J Neurol 2020 Aug;267(8):2198-2206. Epub 2019 Apr 15 doi: 10.1007/s00415-019-09319-8. PMID: 30989370
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B7-B9. doi: 10.1016/j.ajog.2019.09.021. PMID: 31787162
Hall JG, Kimber E, van Bosse HJP
J Pediatr Orthop 2017 Jul/Aug;37 Suppl 1:S4-S8. doi: 10.1097/BPO.0000000000000997. PMID: 28594686

Therapy

Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network, McCray BA
Brain 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. PMID: 38917025Free PMC Article
Chergui S, Al-Ali H, Marwan Y, Abu Dalu K, Dahan-Oliel N, Hamdy RC
Foot Ankle Surg 2023 Jan;29(1):15-21. Epub 2022 Oct 15 doi: 10.1016/j.fas.2022.10.002. PMID: 36266132
Gouveia de Melo ACM, van der Linden V, Serpa SC, Rolim Filho EL, Lins OG
J Clin Neurophysiol 2023 May 1;40(4):350-354. Epub 2021 Sep 6 doi: 10.1097/WNP.0000000000000893. PMID: 34510092
Kindler HL, Novello S, Bearz A, Ceresoli GL, Aerts JGJV, Spicer J, Taylor P, Nackaerts K, Greystoke A, Jennens R, Calabrò L, Burgers JA, Santoro A, Cedrés S, Serwatowski P, Ponce S, Van Meerbeeck JP, Nowak AK, Blumenschein G Jr, Siegel JM, Kasten L, Köchert K, Walter AO, Childs BH, Elbi C, Hassan R, Fennell DA
Lancet Oncol 2022 Apr;23(4):540-552. doi: 10.1016/S1470-2045(22)00061-4. PMID: 35358455Free PMC Article
Piccioni MG, Tabacco S, Giannini A, Deroma M, Logoteta A, Monti M
Minerva Ginecol 2020 Feb;72(1):30-35. doi: 10.23736/S0026-4784.20.04505-0. PMID: 32153161

Prognosis

Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Langston S, Chu A
Pediatr Ann 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01. PMID: 32674167
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B7-B9. doi: 10.1016/j.ajog.2019.09.021. PMID: 31787162
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044
Hall JG
Am Fam Physician 1989 Jan;39(1):113-9. PMID: 2643273

Clinical prediction guides

Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J
J Med Genet 2022 Jun;59(6):559-567. Epub 2021 Apr 5 doi: 10.1136/jmedgenet-2020-107595. PMID: 33820833Free PMC Article
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044

Recent systematic reviews

Chergui S, Al-Ali H, Marwan Y, Abu Dalu K, Dahan-Oliel N, Hamdy RC
Foot Ankle Surg 2023 Jan;29(1):15-21. Epub 2022 Oct 15 doi: 10.1016/j.fas.2022.10.002. PMID: 36266132
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Martins-Filho PR, Souza Tavares CS, Araújo Carvalho AC, Reis MCDS, Santos HP Jr, Santos VS
Pediatr Neurol 2020 Sep;110:20-24. Epub 2020 May 25 doi: 10.1016/j.pediatrneurol.2020.05.007. PMID: 32646676
Piccioni MG, Tabacco S, Giannini A, Deroma M, Logoteta A, Monti M
Minerva Ginecol 2020 Feb;72(1):30-35. doi: 10.23736/S0026-4784.20.04505-0. PMID: 32153161
Duarte G, Moron AF, Timerman A, Fernandes CE, Mariani Neto C, Almeida Filho GL, Werner Junior H, Espírito Santo HFBD, Steibel JAP, Bortoletti Filho J, Andrade JBB, Burlá M, Silva de Sá MF, Busso NE, Giraldo PC, Moreira de Sá RA, Passini Junior R, Mattar R, Francisco RPV
Rev Bras Ginecol Obstet 2017 May;39(5):235-248. Epub 2017 Jun 2 doi: 10.1055/s-0037-1603450. PMID: 28575919Free PMC Article

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