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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

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
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
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM
Pediatr Res 2020 Mar;87(4):735-739. Epub 2019 Oct 16 doi: 10.1038/s41390-019-0611-5. PMID: 31618753Free PMC Article
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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

Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G
Am J Med Genet C Semin Med Genet 2024 Dec;196(4):e32088. Epub 2024 May 20 doi: 10.1002/ajmg.c.32088. PMID: 38766979
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
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
Leopard syndrome.
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
Wiedemann-Beckwith syndrome.
Engström W, Lindham S, Schofield P
Eur J Pediatr 1988 Jun;147(5):450-7. doi: 10.1007/BF00441965. PMID: 3044795

Diagnosis

Post-intubation Respiratory Failure in an Infant with Multiple Congenital Anomalies.
Berlin K, Cabacungan E, Hopp A, Jarzembowski J, Karody V
Neoreviews 2022 Aug 1;23(8):e589-e594. doi: 10.1542/neo.23-8-e589. PMID: 35909110
Pallister-Killian syndrome.
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
Pallister-Hall syndrome has gone the way of modern medical genetics.
Hall JG
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):414-8. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31419. PMID: 25424727
Paroxysmal nocturnal hemoglobinuria.
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
XK-aprosencephaly and related entities.
Renzetti G, Villani A, Bizzarri C, Chessa L, Vignati E, Gianotti A, Cappa M, Szakacs J, Townsend JJ, Miller ME, Opitz JM, Kennedy AM, Byrne JL
Am J Med Genet A 2005 Nov 1;138(4):401-10. doi: 10.1002/ajmg.a.30600. PMID: 16208689

Therapy

Teratogenic causes of malformations.
Gilbert-Barness E
Ann Clin Lab Sci 2010 Spring;40(2):99-114. PMID: 20421621
Multiple congenital anomalies associated with in utero exposure of phenytoin: possible hypoxic ischemic mechanism?
Lyon HM, Holmes LB, Huang T
Birth Defects Res A Clin Mol Teratol 2003 Dec;67(12):993-6. doi: 10.1002/bdra.10100. PMID: 14745921
Ulerythema ophryogenes with multiple congenital anomalies.
Burnett JW, Schwartz MF, Berberian BJ
J Am Acad Dermatol 1988 Feb;18(2 Pt 2):437-40. doi: 10.1016/s0190-9622(88)70065-1. PMID: 3343412
Multiple congenital anomalies in a fetus exposed to 5-fluorouracil during the first trimester.
Stephens JD, Golbus MS, Miller TR, Wilber RR, Epstein CJ
Am J Obstet Gynecol 1980 Jul 15;137(6):747-9. doi: 10.1016/s0002-9378(15)33259-2. PMID: 7395946
Multiple congenital anomalies associated with oral anticoagulants.
Shaul WL, Hall JG
Am J Obstet Gynecol 1977 Jan 15;127(2):191-8. doi: 10.1016/s0002-9378(16)33249-5. PMID: 831501

Prognosis

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Shao L, Akkari Y, Cooley LD, Miller DT, Seifert BA, Wolff DJ, Mikhail FM; ACMG Laboratory Quality Assurance Committee
Genet Med 2021 Oct;23(10):1818-1829. Epub 2021 Jun 15 doi: 10.1038/s41436-021-01214-w. PMID: 34131312
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM
Pediatr Res 2020 Mar;87(4):735-739. Epub 2019 Oct 16 doi: 10.1038/s41390-019-0611-5. PMID: 31618753Free PMC Article
Common genetic and epigenetic syndromes.
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
Pallister-Killian syndrome.
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
Leopard syndrome.
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

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM
Pediatr Res 2020 Mar;87(4):735-739. Epub 2019 Oct 16 doi: 10.1038/s41390-019-0611-5. PMID: 31618753Free PMC Article
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
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
FTO variant associated with malformation syndrome.
Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K
Am J Med Genet A 2016 Apr;170A(4):1023-8. Epub 2015 Dec 24 doi: 10.1002/ajmg.a.37515. PMID: 26697951
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
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
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
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

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
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
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
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
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
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
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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    Related information

    • ClinVar
      Related medical variations
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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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