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Multiple congenital anomalies(MCA)

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
Synonyms: Congenital anomalies; MCA; Multiple congenital malformations

Definition

The presence of multiple congenital malformations in a patient. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple congenital anomalies

Professional guidelines

PubMed

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL
Genet Med 2020 Feb;22(2):245-257. Epub 2019 Nov 6 doi: 10.1038/s41436-019-0686-8. PMID: 31690835Free PMC Article
Babkina N, Graham JM Jr
Semin Fetal Neonatal Med 2014 Jun;19(3):214-9. Epub 2013 Dec 4 doi: 10.1016/j.siny.2013.10.005. PMID: 24315623
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S
Genet Med 2015 Jul;17(7):578-86. Epub 2014 Nov 13 doi: 10.1038/gim.2014.154. PMID: 25356970
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW
Eur J Hum Genet 2011 Mar;19(3):280-6. Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.184. PMID: 21150890Free PMC Article
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Engström W, Lindham S, Schofield P
Eur J Pediatr 1988 Jun;147(5):450-7. doi: 10.1007/BF00441965. PMID: 3044795

Diagnosis

Stoll C, Alembick Y, Roth MP
Am J Med Genet A 2023 Sep;191(9):2312-2323. Epub 2023 Jul 21 doi: 10.1002/ajmg.a.63344. PMID: 37477275
Stoll C, Alembik Y, Dott B, Roth MP
Eur J Med Genet 2022 Nov;65(11):104612. Epub 2022 Sep 20 doi: 10.1016/j.ejmg.2022.104612. PMID: 36150686
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112
Brodsky RA
Blood 2014 Oct 30;124(18):2804-11. Epub 2014 Sep 18 doi: 10.1182/blood-2014-02-522128. PMID: 25237200Free PMC Article
Yadav DK, Panda SS, Teckchandani N, Bagga D
BMJ Case Rep 2013 Jul 31;2013 doi: 10.1136/bcr-2013-200215. PMID: 23904432Free PMC Article

Therapy

Kang M, Wu M, Crane JL
Bone 2023 Jul;172:116778. Epub 2023 Apr 21 doi: 10.1016/j.bone.2023.116778. PMID: 37088336Free PMC Article
O'Sullivan DL, Byatt N, Dossett EC
J Acad Consult Liaison Psychiatry 2022 Jan-Feb;63(1):53-60. Epub 2021 Aug 27 doi: 10.1016/j.jaclp.2021.08.011. PMID: 34461296
Ontario Health (Quality)
Ont Health Technol Assess Ser 2020;20(11):1-178. Epub 2020 Mar 6 PMID: 32194879Free PMC Article
Gilbert-Barness E
Ann Clin Lab Sci 2010 Spring;40(2):99-114. PMID: 20421621
Butler MG, Hayes BG, Hathaway MM, Begleiter ML
Anesth Analg 2000 Oct;91(4):837-55. doi: 10.1097/00000539-200010000-00014. PMID: 11004035Free PMC Article

Prognosis

Al-Dewik N, Samara M, Younes S, Al-Jurf R, Nasrallah G, Al-Obaidly S, Salama H, Olukade T, Hammuda S, Marlow N, Ismail M, Abu Nada T, Qoronfleh MW, Thomas B, Abdoh G, Abdulrouf PV, Farrell T, Al Qubaisi M, Al Rifai H
Sci Rep 2023 Feb 7;13(1):2198. doi: 10.1038/s41598-023-27935-3. PMID: 36750603Free PMC Article
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U
Genet Med 2023 Jan;25(1):37-48. Epub 2022 Nov 2 doi: 10.1016/j.gim.2022.09.007. PMID: 36322149
Adams DJ, Clark DA
Pediatr Clin North Am 2015 Apr;62(2):411-26. Epub 2015 Jan 22 doi: 10.1016/j.pcl.2014.11.005. PMID: 25836705
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Clinical prediction guides

Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I
Am J Med Genet A 2021 Dec;185(12):3728-3739. Epub 2021 Aug 3 doi: 10.1002/ajmg.a.62443. PMID: 34346154Free PMC Article
Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network, Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A
Sci Adv 2021 Jan;7(4) Epub 2021 Jan 20 doi: 10.1126/sciadv.abe2116. PMID: 33523931Free PMC Article
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG
Genet Med 2018 Oct;20(10):1175-1185. Epub 2018 Feb 22 doi: 10.1038/gim.2017.249. PMID: 29469822Free PMC Article
Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S
Genet Med 2015 Jul;17(7):578-86. Epub 2014 Nov 13 doi: 10.1038/gim.2014.154. PMID: 25356970
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW
Eur J Hum Genet 2011 Mar;19(3):280-6. Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.184. PMID: 21150890Free PMC Article

Recent systematic reviews

Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N
Am J Med Genet A 2023 Jun;191(6):1639-1645. Epub 2023 Mar 20 doi: 10.1002/ajmg.a.63186. PMID: 36941760
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A
Eur J Med Genet 2021 Jun;64(6):104210. Epub 2021 Mar 30 doi: 10.1016/j.ejmg.2021.104210. PMID: 33794347
Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J
BMC Med Genet 2018 Feb 27;19(1):31. doi: 10.1186/s12881-018-0545-5. PMID: 29482518Free PMC Article

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