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Congenital amyoplasia

MedGen UID:
678346
Concept ID:
C0812412
Disease or Syndrome
Synonyms: Amyoplasia congenita; amyoplasia congenita; Classic arthrogryposis; congenital amyoplasia
SNOMED CT: Classic arthrogryposis (1264194006); Amyoplasia congenita (1264194006); Congenital amyoplasia (1264194006)
 
Monarch Initiative: MONDO:0044629
Orphanet: ORPHA488586

Definition

A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital amyoplasia

Professional guidelines

PubMed

Schaibley C, Torres-Izquierdo B, Hosseinzadeh P
J Pediatr Orthop 2024 Sep 1;44(8):508-512. Epub 2024 Apr 30 doi: 10.1097/BPO.0000000000002715. PMID: 38689454
Song K
J Pediatr Orthop 2017 Sep;37 Suppl 2:S42-S47. doi: 10.1097/BPO.0000000000001030. PMID: 28799994
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688

Recent clinical studies

Etiology

Le Tanno P, Latypova X, Rendu J, Fauré J, Bourg V, Gauthier M, Billy-Lopez G, Jouk PS, Dieterich K
J Med Genet 2023 Jan;60(1):13-24. Epub 2021 Dec 7 doi: 10.1136/jmedgenet-2021-107823. PMID: 34876503
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
Valdés-Flores M, Casas-Avila L, Hernández-Zamora E, Kofman S, Hidalgo-Bravo A
J Pediatr (Rio J) 2016 Jan-Feb;92(1):58-64. Epub 2015 Oct 9 doi: 10.1016/j.jped.2015.04.008. PMID: 26453511
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
Vanpaemel L, Schoenmakers M, van Nesselrooij B, Pruijs H, Helders P
J Pediatr Orthop B 1997 Jul;6(3):172-8. doi: 10.1097/01202412-199707000-00004. PMID: 9260645

Diagnosis

Hermansen MV, Wekre LL, Lidal IB
Am J Med Genet A 2023 Jul;191(7):1693-1703. Epub 2023 Apr 3 doi: 10.1002/ajmg.a.63201. PMID: 37009761
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B
Acta Myol 2020 Dec;39(4):245-265. Epub 2020 Dec 1 doi: 10.36185/2532-1900-028. PMID: 33458580Free PMC Article
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
Banker NL
J Indian Med Assoc 2002 May;100(5):329, 331. PMID: 12418638
Alfonso I, Alfonso DT, Papazian O
Semin Pediatr Neurol 2000 Mar;7(1):4-14. doi: 10.1016/s1071-9091(00)80005-4. PMID: 10749509

Therapy

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR
J Clin Invest 2016 Feb;126(2):762-78. Epub 2016 Jan 11 doi: 10.1172/JCI84457. PMID: 26752647Free PMC Article

Prognosis

Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS
Am J Med Genet A 2023 Feb;191(2):546-553. Epub 2022 Nov 1 doi: 10.1002/ajmg.a.63019. PMID: 36317804
Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P
Int J Mol Sci 2021 Feb 20;22(4) doi: 10.3390/ijms22042106. PMID: 33672664Free PMC Article
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044
Alfonso I, Alfonso DT, Papazian O
Semin Pediatr Neurol 2000 Mar;7(1):4-14. doi: 10.1016/s1071-9091(00)80005-4. PMID: 10749509
Vanpaemel L, Schoenmakers M, van Nesselrooij B, Pruijs H, Helders P
J Pediatr Orthop B 1997 Jul;6(3):172-8. doi: 10.1097/01202412-199707000-00004. PMID: 9260645

Clinical prediction guides

Le Tanno P, Latypova X, Rendu J, Fauré J, Bourg V, Gauthier M, Billy-Lopez G, Jouk PS, Dieterich K
J Med Genet 2023 Jan;60(1):13-24. Epub 2021 Dec 7 doi: 10.1136/jmedgenet-2021-107823. PMID: 34876503
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P
Int J Mol Sci 2021 Feb 20;22(4) doi: 10.3390/ijms22042106. PMID: 33672664Free PMC Article
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
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044

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