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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

MedGen UID:
1842606
•Concept ID:
C5680922
•
Disease or Syndrome
Synonym: Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15
 
Monarch Initiative: MONDO:0016475
Orphanet: ORPHA231117

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome due to imprinting defect of 11p15

Professional guidelines

PubMed

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article

Recent clinical studies

Etiology

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang R, Xiao Y, Li D, Hu H, Li X, Ge T, Yu R, Wang Y, Zhang T
Ital J Pediatr 2020 Apr 29;46(1):55. doi: 10.1186/s13052-020-0819-3. PMID: 32349794Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H, Higashimoto K
J Hum Genet 2013 Jul;58(7):402-9. Epub 2013 May 30 doi: 10.1038/jhg.2013.51. PMID: 23719190
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
Demars J, Gicquel C
Clin Genet 2012 Apr;81(4):350-61. Epub 2012 Jan 16 doi: 10.1111/j.1399-0004.2011.01822.x. PMID: 22150955

Diagnosis

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M
Int J Mol Sci 2021 Mar 26;22(7) doi: 10.3390/ijms22073445. PMID: 33810554Free PMC Article
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A
J Med Genet 2021 Mar;58(3):178-184. Epub 2020 May 19 doi: 10.1136/jmedgenet-2019-106498. PMID: 32430359Free PMC Article
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang R, Xiao Y, Li D, Hu H, Li X, Ge T, Yu R, Wang Y, Zhang T
Ital J Pediatr 2020 Apr 29;46(1):55. doi: 10.1186/s13052-020-0819-3. PMID: 32349794Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424

Therapy

Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.
Moutafi M, Gkiourtzis N, Ververi A, Kavga M, Morichovitou A, Papadopoulou-Legbelou K, Fotoulaki M, Panagopoulou P
Am J Med Genet A 2024 Jan;194(1):88-93. Epub 2023 Aug 26 doi: 10.1002/ajmg.a.63381. PMID: 37632712
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K
Genet Test Mol Biomarkers 2015 Dec;19(12):684-91. Epub 2015 Oct 27 doi: 10.1089/gtmb.2015.0163. PMID: 26505556Free PMC Article
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER
Hum Reprod 2009 Mar;24(3):741-7. Epub 2008 Dec 10 doi: 10.1093/humrep/den406. PMID: 19073614
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.
Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C
J Med Genet 2006 Dec;43(12):902-7. Epub 2006 Jul 6 doi: 10.1136/jmg.2006.042135. PMID: 16825435Free PMC Article
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.
Rump P, Zeegers MP, van Essen AJ
Am J Med Genet A 2005 Jul 1;136(1):95-104. doi: 10.1002/ajmg.a.30729. PMID: 15887271

Prognosis

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. PMID: 35765875Free PMC Article
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.
Pappas JG
Curr Probl Pediatr Adolesc Health Care 2015 Apr;45(4):112-7. Epub 2015 Apr 7 doi: 10.1016/j.cppeds.2015.03.001. PMID: 25861997
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424

Clinical prediction guides

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang R, Xiao Y, Li D, Hu H, Li X, Ge T, Yu R, Wang Y, Zhang T
Ital J Pediatr 2020 Apr 29;46(1):55. doi: 10.1186/s13052-020-0819-3. PMID: 32349794Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Molecular biology of Beckwith-Wiedemann syndrome.
Weksberg R, Squire JA
Med Pediatr Oncol 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. PMID: 8827075

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