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Congenital anomaly of musculoskeletal system

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
Synonyms: Abnormalities, Musculoskeletal; Abnormality, Musculoskeletal; Musculoskeletal Abnormalities; Musculoskeletal Abnormality
SNOMED CT: Congenital anomaly of musculoskeletal system (73573004); Congenital deformity of musculoskeletal system (73573004); Congenital musculoskeletal abnormality (73573004); Congenital malformation and deformation of the musculoskeletal system (73573004); Congenital abnormality of musculoskeletal system (73573004); Congenital malformation of musculoskeletal system (73573004)

Definition

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital anomaly of musculoskeletal system

Professional guidelines

PubMed

Cady R, Hennessey TA, Schwend RM
Pediatrics 2022 Feb 1;149(2) doi: 10.1542/peds.2021-055555. PMID: 35104362Free PMC Article
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Santiago GS, Santiago CN, Chwa ES, Purnell CA
Pediatr Ann 2023 Jan;52(1):e10-e17. Epub 2023 Jan 1 doi: 10.3928/19382359-20221114-03. PMID: 36625797
Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999
Simionescu AA, Cirstoiu MM, Cirstoiu C, Stanescu AMA, Crețu B
Medicina (Kaunas) 2021 Jun 26;57(7) doi: 10.3390/medicina57070655. PMID: 34206824Free PMC Article
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article

Diagnosis

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724
Andring N, Kennedy SA, Iannuzzi NP
J Hand Surg Am 2018 May;43(5):455-463. Epub 2018 Mar 27 doi: 10.1016/j.jhsa.2018.02.028. PMID: 29602650
Bitterman AD, Sponseller PD
J Am Acad Orthop Surg 2017 Sep;25(9):603-609. doi: 10.5435/JAAOS-D-16-00143. PMID: 28837453
Herman MJ, Martinek M
Pediatr Rev 2015 May;36(5):184-95; quiz 196-7. doi: 10.1542/pir.36-5-184. PMID: 25934907
Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472

Therapy

Shakir S, Hoppe IC, Taylor JA
Clin Plast Surg 2019 Apr;46(2):185-195. Epub 2019 Jan 9 doi: 10.1016/j.cps.2018.11.004. PMID: 30851750
Alam F, Raza S, Moiz JA, Bhati P, Anwer S, Alghadir A
Phys Sportsmed 2019 Sep;47(3):301-311. Epub 2018 Dec 5 doi: 10.1080/00913847.2018.1553466. PMID: 30517043
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961

Prognosis

Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Andring N, Kennedy SA, Iannuzzi NP
J Hand Surg Am 2018 May;43(5):455-463. Epub 2018 Mar 27 doi: 10.1016/j.jhsa.2018.02.028. PMID: 29602650
Dugoff L, Thieme G, Hobbins JC
Clin Perinatol 2000 Dec;27(4):979-1005. doi: 10.1016/s0095-5108(05)70060-9. PMID: 11816496

Clinical prediction guides

Donnan M, Anderson N, Hoq M, Donnan L
Bone Joint J 2023 Oct 1;105-B(10):1123-1130. doi: 10.1302/0301-620X.105B10.BJJ-2023-0143.R1. PMID: 37777201
Vatzia K, Fanariotis M, Makridis KG, Vlychou M, Fezoulidis IV, Vassiou K
Eur J Radiol 2021 Sep;142:109828. Epub 2021 Jun 24 doi: 10.1016/j.ejrad.2021.109828. PMID: 34280594
Huybrechts Y, Mortier G, Boudin E, Van Hul W
Front Endocrinol (Lausanne) 2020;11:165. Epub 2020 Apr 9 doi: 10.3389/fendo.2020.00165. PMID: 32328030Free PMC Article
Carvalho GF, Schwarz A, Szikszay TM, Adamczyk WM, Bevilaqua-Grossi D, Luedtke K
Braz J Phys Ther 2020 Jul-Aug;24(4):306-317. Epub 2019 Nov 29 doi: 10.1016/j.bjpt.2019.11.001. PMID: 31813696Free PMC Article
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497

Recent systematic reviews

Xu L, Gu H, Zhang Y, Sun T, Yu J
Int J Environ Res Public Health 2022 Jul 6;19(14) doi: 10.3390/ijerph19148247. PMID: 35886097Free PMC Article
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 26;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub4. PMID: 35080267Free PMC Article
Ferreira RG, Mendonça CR, Gonçalves Ramos LL, de Abreu Tacon FS, Naves do Amaral W, Ruano R
J Matern Fetal Neonatal Med 2022 Dec;35(25):6199-6212. Epub 2021 Apr 25 doi: 10.1080/14767058.2021.1909563. PMID: 33899664
Hewitt L, Kerr E, Stanley RM, Okely AD
Pediatrics 2020 Jun;145(6) Epub 2020 May 5 doi: 10.1542/peds.2019-2168. PMID: 32371428

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