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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

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
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
Genotype-phenotype correlations in recessive titinopathies.
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
Treatment of the upper limb in the child with arthrogryposis.
Ezaki M
Hand Clin 2000 Nov;16(4):703-11. PMID: 11117058

Recent clinical studies

Etiology

Fetal arthrogryposis-what do we tell the prospective parents?
Filges I, Jünemann S, Viehweger E, Tercanli S
Prenat Diagn 2023 Jun;43(6):798-805. Epub 2023 Jan 12 doi: 10.1002/pd.6299. PMID: 36588183
Genetics and Classifications.
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
Syndromic Feet: Arthrogryposis and Myelomeningocele.
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
Amyoplasia revisited.
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
Thick filament diseases.
Oldfors A, Lamont PJ
Adv Exp Med Biol 2008;642:78-91. doi: 10.1007/978-0-387-84847-1_7. PMID: 19181095

Diagnosis

Arthrogryposis Multiplex Congenita.
Langston S, Chu A
Pediatr Ann 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01. PMID: 32674167
Hereditary neuropathy with liability to pressure palsies.
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
Arthrogryposis.
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
Classification of arthrogryposis.
Hall JG, Kimber E, Dieterich K
Am J Med Genet C Semin Med Genet 2019 Sep;181(3):300-303. Epub 2019 Jul 4 doi: 10.1002/ajmg.c.31716. PMID: 31271512
Genetics and Classifications.
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

Electromyography in Congenital Zika Syndrome.
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
Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies.
Althammer F, Muscatelli F, Grinevich V, Schaaf CP
Transl Psychiatry 2022 Aug 8;12(1):318. doi: 10.1038/s41398-022-02054-1. PMID: 35941105Free PMC Article
Anesthetic considerations in Sheldon-Hall syndrome.
Anderson TA, Kasser JR, Holzman RS
Paediatr Anaesth 2014 May;24(5):538-40. doi: 10.1111/pan.12303. PMID: 24829975
Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.
Benca J, Hogan K
Anesth Analg 2009 Oct;109(4):1049-53. doi: 10.1213/ane.0b013e3181adca28. PMID: 19762731
Epidemiological assessment of misoprostol teratogenicity.
Orioli IM, Castilla EE
BJOG 2000 Apr;107(4):519-23. doi: 10.1111/j.1471-0528.2000.tb13272.x. PMID: 10759272

Prognosis

Arthrogryposis Multiplex Congenita.
Langston S, Chu A
Pediatr Ann 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01. PMID: 32674167
Arthrogryposis.
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
ARC syndrome.
Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M
Turk J Pediatr 2017;59(4):487-490. doi: 10.24953/turkjped.2017.04.019. PMID: 29624233
Arthrogryposis multiplex congenita.
Mennen U, van Heest A, Ezaki MB, Tonkin M, Gericke G
J Hand Surg Br 2005 Oct;30(5):468-74. doi: 10.1016/j.jhsb.2005.06.004. PMID: 16061316
Arthrogryposis and amyoplasia.
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044

Clinical prediction guides

Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
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
Treatment and outcomes of arthrogryposis in the upper extremity.
Oishi S, Agranovich O, Zlotolow D, Wall L, Stutz C, Pajardi G, Novelli C, Abdel Ghani H, Jester A, Vuillermin C, James M, Manske MC, Beckwith T
Am J Med Genet C Semin Med Genet 2019 Sep;181(3):363-371. Epub 2019 Jul 3 doi: 10.1002/ajmg.c.31722. PMID: 31268234
Lipomas of the Brachial Plexus: A Case Series and Review of the Literature.
Graf A, Yang K, King D, Dzwierzynski W, Sanger J, Hettinger P
Hand (N Y) 2019 May;14(3):333-338. Epub 2017 Oct 23 doi: 10.1177/1558944717735946. PMID: 29058949Free PMC Article
Arthrogryposis and amyoplasia.
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

Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Rice SM, Varotsis DF, Wodoslawsky S, Critchlow E, Liu R, McLaren RA Jr, Makhamreh MM, Firman B, Berger SI, Al-Kouatly HB
Prenat Diagn 2024 Oct;44(11):1381-1397. Epub 2024 Sep 3 doi: 10.1002/pd.6637. PMID: 39228063
Talectomy for arthrogrypotic foot deformities: A systematic review.
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
Nerve wrapping for recurrent compression neuropathy: A systematic review.
Thakker A, Sharma SC, Hussain NM, Devani P, Lahiri A
J Plast Reconstr Aesthet Surg 2021 Mar;74(3):549-559. Epub 2020 Nov 8 doi: 10.1016/j.bjps.2020.10.085. PMID: 33268044
Congenital Zika syndrome: A systematic review.
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
Separation in genetic pathogenesis of mutations in FBN1-TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome.
Sun C, Xu D, Pei Z, Yang L, Qiao Z, Lu W, Luo F, Qiu Z
Birth Defects Res 2020 Dec;112(20):1834-1842. Epub 2020 Oct 8 doi: 10.1002/bdr2.1814. PMID: 33030311

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