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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
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA
Pediatrics 2010 Oct;126(4):746-59. Epub 2010 Sep 27 doi: 10.1542/peds.2009-3207. PMID: 20876176
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
Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400
Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320
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

Escobar K, Pandher K, Jahnke MN
Dermatol Clin 2022 Oct;40(4):425-433. Epub 2022 Sep 16 doi: 10.1016/j.det.2022.06.005. PMID: 36243429
Marques P, Korbonits M
Front Neuroendocrinol 2019 Jan;52:113-143. Epub 2018 Nov 15 doi: 10.1016/j.yfrne.2018.11.001. PMID: 30448536
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
Oetgen ME, Kelly SM, Sellier LS, Du Plessis A
J Am Acad Orthop Surg 2015 Apr;23(4):213-21. doi: 10.5435/JAAOS-D-14-00004. PMID: 25808685
Dugoff L, Thieme G, Hobbins JC
Clin Perinatol 2000 Dec;27(4):979-1005. doi: 10.1016/s0095-5108(05)70060-9. PMID: 11816496

Therapy

Tao Z, Wang J, Li Y, Zhou Y, Yan X, Yang J, Liu H, Li B, Ling J, Pei Y, Zhang J, Li Y
BMJ Paediatr Open 2023 Oct;7(1) doi: 10.1136/bmjpo-2023-002080. PMID: 37879719Free PMC Article
Bina S, Pacey V, Barnes EH, Burns J, Gray K
Cochrane Database Syst Rev 2020 May 15;5(5):CD008602. doi: 10.1002/14651858.CD008602.pub4. PMID: 32412098Free PMC Article
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
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

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
Jain V, Sen B
J Pediatr Orthop B 2014 Sep;23(5):485-8. doi: 10.1097/BPB.0000000000000058. PMID: 24800790
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
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

Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models, Wangler MF, Yamamoto S, Chung WK, Bellen HJ
Am J Hum Genet 2024 Apr 4;111(4):742-760. Epub 2024 Mar 12 doi: 10.1016/j.ajhg.2024.02.007. PMID: 38479391Free PMC Article
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
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
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552

Recent systematic reviews

Hara S, Kitano M, Kudo S
J Back Musculoskelet Rehabil 2023;36(1):21-33. doi: 10.3233/BMR-210374. PMID: 35871320
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
Herchenröder M, Wilfling D, Steinhäuser J
J Foot Ankle Res 2021 Nov 29;14(1):57. doi: 10.1186/s13047-021-00499-z. PMID: 34844639Free PMC Article

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