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Congenital malformation syndrome

MedGen UID:
473392
Concept ID:
C1302790
Disease or Syndrome
Synonyms: Congenital Malformation Syndrome; Multiple congenital anomalies; Multiple congenital malformations
SNOMED CT: Congenital malformation syndrome (400038003); Multiple congenital malformations (400038003); Multiple congenital anomalies (400038003)

Definition

A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital malformation syndrome

Professional guidelines

PubMed

Schott DA, Stumpel CTRM, Klaassens M
Am J Med Genet A 2019 Feb;179(2):219-223. Epub 2018 Dec 17 doi: 10.1002/ajmg.a.60696. PMID: 30556359Free PMC Article
Oduber CE, van der Horst CM, Hennekam RC
Ann Plast Surg 2008 Feb;60(2):217-23. doi: 10.1097/SAP.0b013e318062abc1. PMID: 18216519
van Haelst MM, Scambler PJ; Fraser Syndrome Collaboration Group, Hennekam RC
Am J Med Genet A 2007 Dec 15;143A(24):3194-203. doi: 10.1002/ajmg.a.31951. PMID: 18000968

Recent clinical studies

Etiology

Lopriore P, Vista M, Maritato P, Caldarazzo Ienco E, Bassani L, Natale G, Tessa A, Santorelli FM, Orsucci D
Neurol Sci 2024 Jun;45(6):2853-2857. Epub 2024 Jan 23 doi: 10.1007/s10072-024-07331-z. PMID: 38253744
Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM
Mol Genet Genomic Med 2021 Oct;9(10):e1791. Epub 2021 Aug 24 doi: 10.1002/mgg3.1791. PMID: 34427995Free PMC Article
Alvarado MG, Schwartz DA
Arch Pathol Lab Med 2017 Jan;141(1):26-32. Epub 2016 Sep 16 doi: 10.5858/arpa.2016-0382-RA. PMID: 27636525
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Diagnosis

Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Plantin S, Fabre M, Soupre V, Guimier A, Agostini V, Gordon CT, Galliani E, Picard A, Morice A
Int J Oral Maxillofac Surg 2022 Mar;51(3):347-354. Epub 2021 Aug 26 doi: 10.1016/j.ijom.2021.07.012. PMID: 34456081
Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM
Mol Genet Genomic Med 2021 Oct;9(10):e1791. Epub 2021 Aug 24 doi: 10.1002/mgg3.1791. PMID: 34427995Free PMC Article
Lei J, Han L, Huang Y, Long M, Zhao G, Yan S, Zhang J
Am J Med Genet A 2021 Jul;185(7):2262-2266. Epub 2021 Apr 5 doi: 10.1002/ajmg.a.62190. PMID: 33818875
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article

Therapy

Sonoda M, Ishimura M, Inoue H, Eguchi K, Ochiai M, Sakai Y, Doi T, Suzuki K, Inoue T, Mizukami T, Nakamura K, Takada H, Ohga S
Pediatr Blood Cancer 2024 Mar;71(3):e30809. Epub 2023 Dec 11 doi: 10.1002/pbc.30809. PMID: 38078568
Chida-Nagai A, Sagawa K, Tsujioka T, Fujimoto T, Taniguchi K, Sasaki O, Izumi G, Yamazawa H, Masaki N, Manabe A, Takeda A
Heart Vessels 2020 Sep;35(9):1307-1315. Epub 2020 Apr 13 doi: 10.1007/s00380-020-01604-1. PMID: 32285188Free PMC Article
Hosaka S, Kobayashi C, Saito H, Imai-Saito A, Suzuki R, Iwabuchi A, Kato Y, Jimbo T, Watanabe N, Onodera M, Imadome KI, Masumoto K, Nanmoku T, Fukushima T, Kosaki K, Sumazaki R, Takada H
Pediatr Transplant 2019 Jun;23(4):e13424. Epub 2019 Apr 29 doi: 10.1111/petr.13424. PMID: 31033123
Schott DA, Stumpel CTRM, Klaassens M
Am J Med Genet A 2019 Feb;179(2):219-223. Epub 2018 Dec 17 doi: 10.1002/ajmg.a.60696. PMID: 30556359Free PMC Article
Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M
BMC Med Genet 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. PMID: 26297663Free PMC Article

Prognosis

Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM
Mol Genet Genomic Med 2021 Oct;9(10):e1791. Epub 2021 Aug 24 doi: 10.1002/mgg3.1791. PMID: 34427995Free PMC Article
Jezela-Stanek A
J Mother Child 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. PMID: 33074183Free PMC Article
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD
Am J Med Genet A 2017 Oct;173(10):2577-2583. Epub 2017 Aug 10 doi: 10.1002/ajmg.a.38361. PMID: 28796426Free PMC Article
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Clinical prediction guides

Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article
Schott DA, Stumpel CTRM, Klaassens M
Am J Med Genet A 2019 Feb;179(2):219-223. Epub 2018 Dec 17 doi: 10.1002/ajmg.a.60696. PMID: 30556359Free PMC Article
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M
Eur J Med Genet 2012 Feb;55(2):81-90. Epub 2011 Dec 22 doi: 10.1016/j.ejmg.2011.12.002. PMID: 22226660
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

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