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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

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):262-75. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31407. PMID: 25168959
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.
Oduber CE, van der Horst CM, Hennekam RC
Ann Plast Surg 2008 Feb;60(2):217-23. doi: 10.1097/SAP.0b013e318062abc1. PMID: 18216519
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.
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

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
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
Interstitial Lung Disease in Rare Congenital Syndromes.
Jezela-Stanek A
J Mother Child 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. PMID: 33074183Free PMC Article
Vitamin D levels in Smith-Lemli-Opitz syndrome.
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
Zika Virus Infection in Pregnancy, Microcephaly, and Maternal and Fetal Health: What We Think, What We Know, and What We Think We Know.
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
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Diagnosis

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
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
Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
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
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C, D'haenens E, Vergult S, Leus J, van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM
Clin Genet 2021 Mar;99(3):449-456. Epub 2021 Jan 5 doi: 10.1111/cge.13901. PMID: 33340101
Interstitial Lung Disease in Rare Congenital Syndromes.
Jezela-Stanek A
J Mother Child 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. PMID: 33074183Free PMC Article
Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.
Fukami M, Ogata T
Pediatr Int 2014 Dec;56(6):805-808. doi: 10.1111/ped.12518. PMID: 25294558

Therapy

Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.
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
Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion.
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
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
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
Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.
Schott DA, Gerver WJ, Stumpel CT
Horm Res Paediatr 2016;86(5):319-324. Epub 2016 Sep 21 doi: 10.1159/000449221. PMID: 27649541
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
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

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
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
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C, D'haenens E, Vergult S, Leus J, van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM
Clin Genet 2021 Mar;99(3):449-456. Epub 2021 Jan 5 doi: 10.1111/cge.13901. PMID: 33340101
Interstitial Lung Disease in Rare Congenital Syndromes.
Jezela-Stanek A
J Mother Child 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. PMID: 33074183Free PMC Article
Vitamin D levels in Smith-Lemli-Opitz syndrome.
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
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Clinical prediction guides

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
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
Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
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
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
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
Growth pattern in Kabuki syndrome with a KMT2D mutation.
Schott DA, Blok MJ, Gerver WJ, Devriendt K, Zimmermann LJ, Stumpel CT
Am J Med Genet A 2016 Dec;170(12):3172-3179. Epub 2016 Aug 17 doi: 10.1002/ajmg.a.37930. PMID: 27530205
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

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