Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

Also Known As:

Exomphalos Macroglossia Gigantism Syndrome; Syndrome, Exomphalos-Macroglossia-Gigantism; EMG Syndrome; Exomphalos-Macroglossia-Gigantism Syndrome; Beckwith Wiedemann Syndrome; EMG Syndromes; Exomphalos-Macroglossia-Gigantism Syndromes; Syndrome, Beckwith-Wiedemann; Syndrome, EMG; Syndrome, Wiedemann; Syndrome, Wiedemann-Beckwith; Syndrome, Wiedemann-Beckwith (WBS); Wiedemann Beckwith Syndrome; Wiedemann Beckwith Syndrome (WBS); Wiedemann Syndromes; Wiedemann-Beckwith Syndromes (WBS); Wiedemann Syndrome; Wiedemann-Beckwith Syndrome; Wiedemann-Beckwith Syndrome (WBS)

Networked: 211 relevant articles (3 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Beckwith-Wiedemann Syndrome: 211
      - Franceschini Vardeu Guala syndrome
  - Chromosome Disorders: 136
    - Beckwith-Wiedemann Syndrome: 211
      - Franceschini Vardeu Guala syndrome
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Beckwith-Wiedemann Syndrome: 211
      - Franceschini Vardeu Guala syndrome
  - Imprinting Disorders: 60
    - Beckwith-Wiedemann Syndrome: 211
      - Franceschini Vardeu Guala syndrome

Related Diseases

1.	Neoplasms (Cancer)
2.	Wilms Tumor (Wilm's Tumor)
3.	Neoplasm Metastasis (Metastasis)
4.	Adrenal Cortex Neoplasms (Adrenocortical Cancer)
5.	Silver-Russell Syndrome

Experts

1.	Eggermann, Thomas: 11 articles (10/2020 - 03/2008)
2.	Begemann, Matthias: 7 articles (10/2020 - 09/2012)
3.	Ferrero, Giovanni Battista: 7 articles (01/2017 - 09/2004)
4.	Netchine, Irène: 6 articles (10/2022 - 02/2011)
5.	Mussa, Alessandro: 6 articles (01/2017 - 01/2012)
6.	Riccio, Andrea: 5 articles (10/2016 - 09/2004)
7.	Russo, Silvia: 5 articles (10/2016 - 01/2012)
8.	Brioude, Frédéric: 4 articles (10/2022 - 11/2014)
9.	Prawitt, Dirk: 4 articles (10/2016 - 03/2005)
10.	Soejima, Hidenobu: 4 articles (12/2014 - 10/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Beckwith-Wiedemann Syndrome:

1.	Insulin-Like PeptidesIBA 01/01/2019 - "We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of insulin-like growth factor 2 (IGF2), as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the type 1 IGF receptor gene (IGF1R), resulting in haploinsufficiency for this gene. " 08/01/1994 - "Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome." 10/01/1993 - "Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome." 04/01/1995 - "Observations in the Beckwith-Wiedemann syndrome suggest that sympathetic embryonal cells with an abundant expression of the insulin-like growth factor 2 gene (IGF2) may be involved in the genesis of low-malignant infant neuroblastomas. " 11/01/2006 - "The identification of germline genetic defects in familial diseases associated with adrenocortical tumors helped to define the somatic alterations in sporadic disease: for example, overexpression of insulin-like growth factor 2 and alterations at the 11p15 locus (observed in Beckwith-Wiedemann syndrome) are also found in most adrenocortical cancers. "
2.	Insulin-Like Growth Factor II (Somatomedin A)IBA 05/01/1993 - "In an attempt to elucidate the role of methylation in parental imprinting at the IGF-II gene locus, for which imprinting has already been described in the mouse, we undertook an allele specific methylation study of the human IGF-II gene (mapped to 11p15.5) in a control population and in patients with Beckwith-Wiedemann syndrome. " 04/01/2007 - "These results suggest that, in contrast with Beckwith-Wiedemann syndrome-associated macrosomia, loss of imprinting for IGF-II or H19 is not a common feature of diabetic pregnancies associated with macrosomia." 02/01/1999 - "Such increased IGF-II expression would appear to explain the overgrowth in Beckwith-Wiedemann syndrome. " 02/01/1997 - "This speculation was heightened by genetic evidence for the involvement of genomic imprinting in Beck-Wiedemann syndrome and Wilms' tumour, combined with the discovery that the IGF-II gene is imprinted. " 02/01/1997 - "Genetic lesions at chromosome 11p15 have been associated with Beck-Wiedemann syndrome and Wilms' tumour for several years and the presence of the gene encoding insulin-like growth factor-II (IGF-II) in this region has given rise to much speculation over the involvement of this factor in these growth defects. "
3.	Insulin (Novolin)FDA Link 05/15/2000 - "Loss of imprinting (LOI) of insulin-like growth factor-2 (IGF-2) has been implicated in the pathogenesis of certain human cancers and tumor-predisposing overgrowth disorders, such as Beckwith-Wiedemann syndrome. " 01/01/1996 - "Beckwit-Wiedemann syndrome (BWS) is a rare congenital disorder apparently related to abnormal regulation of insulin-like growth factor-2 (IGF-2) production. " 01/01/1984 - "The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour." 02/01/2013 - "The Igf2, insulin 2 (Ins2), and H19 genes form a cluster of imprinted genes on chromosome 7. Loss of imprinting of IGF2 in humans is associated with Beckwith-Wiedemann syndrome and Silver-Russell syndrome, as well as with Wilm's tumor and colorectal cancer. " 08/01/1986 - "Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome."
4.	Untranslated RNA (Noncoding RNA)IBA 01/01/2012 - "The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases." 06/17/2016 - "Among CLIM targets is the noncoding RNA H19 whose deregulation is associated with Silver-Russell and Beckwith-Wiedemann syndromes. "
5.	Potassium Channels (Potassium Channel)IBA 03/01/2006 - "Two patients with severe congenital hyperinsulinism, one overlapping with Beckwith-Wiedemann syndrome, had pancreatic histology, ex vivo potassium channel electrophysiological studies, and mutation detection of the encoding genes. " 07/01/2005 - "Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels."
6.	3' Untranslated Regions (3' UTR)IBA 10/01/1993 - "To study insulin-like growth factor 2 (IGF2) imprinting in BWS (Beckwith-Wiedemann syndrome, an overgrowth syndrome associated with Wilms and other embryonal tumours), we examined allele-specific expression using an Apal polymorphism in the 3' untranslated region of IGF2. "
7.	Somatostatin (Somatotropin Release-Inhibiting Factor)IBA 07/01/1991 - "Patients with Beckwith-Wiedemann syndrome have reduced numbers of somatostatin-producing cells and decreased extractable somatostatin. " 07/01/1991 - "The effects of a somatostatin analogue on the metabolism of an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic hypoglycaemia." 07/01/1991 - "In this study the effect of long-acting somatostatin (SMS201-995) on the glucose and insulin levels in an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic non-ketotic hypoglycaemia is described. "
8.	Parathyroid Hormone (Parathormone)IBA 01/01/1991 - "The locus for the human parathyroid hormone gene (PTH) was assigned to a region proximal to 11p15.4 using restriction fragment length polymorphisms and gene dose studies performed on a patient with the Beckwith-Wiedemann syndrome accompanied with a chromosome abnormality [46,XX,-14,+der(14),t(14;11)(q32.3;p15.3)pat]. "
9.	Glucose (Dextrose)FDA LinkGeneric 07/01/1991 - "In this study the effect of long-acting somatostatin (SMS201-995) on the glucose and insulin levels in an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic non-ketotic hypoglycaemia is described. "
10.	aminophenylacetylleucine (APAL)IBA 10/01/1993 - "To study insulin-like growth factor 2 (IGF2) imprinting in BWS (Beckwith-Wiedemann syndrome, an overgrowth syndrome associated with Wilms and other embryonal tumours), we examined allele-specific expression using an Apal polymorphism in the 3' untranslated region of IGF2. "

Therapies and Procedures

1.	Therapeutics 05/21/2023 - "Preliminary observations of therapy application for stimulation regions innervated by the trigeminal nerve in children with Beckwith-Wiedemann syndrome seem promising. " 05/21/2023 - "Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith-Wiedemann Syndrome." 10/23/2013 - "Refractory postsurgical pyoderma gangrenosum in a patient with Beckwith Wiedemann syndrome: response to multimodal therapy." 08/01/1988 - "Patients with Wilms tumor associated to Wiedemann-Beckwith syndrome should receive intensive therapy as well as close and prolonged follow-up in spite of apparent tumor remission." 01/01/2016 - "Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy."
2.	Drug Therapy (Chemotherapy) 12/01/2002 - "We report a case of extensive fatty change in a Wilms' tumour after chemotherapy demonstrated on CT associated with an increase in tumour volume, in a 10-month-old girl with Beckwith-Wiedemann syndrome. " 11/01/1996 - "Myelodysplasia in a child with Beckwith-Wiedemann syndrome previously treated for hepatoblastoma with multi-agent chemotherapy." 08/01/1977 - "This is a brief report of a patient with Wiedemann-Beckwith syndrome and nephroblastoma with metastases, apparently cured by surgery, chemotherapy, and radiation." 06/01/2002 - "The potential causes of progressive and severe intrarenal fibrosis, infundibular stenosis and nephrocalcinosis, and renal cysts in this patient may include abnormal renal development secondary to Beckwith-Wiedemann syndrome itself, radiation or chemotherapy damage, or a combination."
3.	Glossectomy 12/01/2020 - "This study compares long-term mandibular growth between a group of Beckwith-Wiedemann Syndrome (BWS) patients who underwent glossectomy at an early age and a group of patients not operated. " 08/28/2023 - "Perioperative Management of a Pediatric Patient with Beckwith-Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser." 12/01/2020 - "Long-term longitudinal evalutation of mandibular growth in patients with Beckwith-Wiedemann Syndrome treated and not treated with glossectomy." 01/01/2012 - "Detailed analyses in a larger number of subjects with and without Beckwith-Wiedemann syndrome may help further illustrate the long-term impact of partial glossectomy." 01/01/2012 - "A partial glossectomy was performed in 4 children with Beckwith- Wiedemann syndrome between the ages of 0.5 and 3.1 years. "
4.	Ligation 01/01/2023 - "Karyotype, array-CGH and Beckwith-Wiedemann Syndrome (BWS) testing (methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of 11p15) performed on amniocytes were negative. " 01/01/2016 - "Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis that results from abnormal expression or function of imprinted genes of chromosome 11p15.5. Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on methylation profiling of H19-associated imprinting center (IC) 1 and KCNQ1OT1-associated IC2 using high-resolution melting analysis, multiplex ligation-dependent probe amplification, or high-resolution quantitative methylation profiling. " 12/01/2007 - "A combination of Southern blotting analysis, methylation-sensitive polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) was utilized to evaluate methylation patterns in the Beckwith-Wiedemann syndrome (BWS) and Prader-Willi/Angelman syndrome (PW/AS) critical regions. " 09/01/2013 - "Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wiedemann syndrome (BWS) and the Silver-Russell syndrome (SRS). " 01/01/2015 - "Imprinting disorders, such as Beckwith-Wiedemann syndrome (BWS), Prader-Willi syndrome (PWS) and Angelman syndrome (AS), can be detected via methylation analysis, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), or other methods. "
5.	Pancreatectomy 01/01/2019 - "From 1998 to 2018, 500 patients with HI underwent pancreatectomy: 246 for focal HI, 202 for diffuse HI, 37 for atypical HI (16 for Localized Islet Nuclear Enlargement [LINE], 21 for Beckwith-Wiedemann Syndrome), and 15 for insulinoma. " 12/01/2013 - "To present our experience in the care of infants with Beckwith-Wiedemann syndrome (BWS) who required pancreatectomy for the management of severe Congenital Hyperinsulinism (HI). " 08/01/2001 - "The fifth patient presented with Beckwith-Wiedemann syndrome, with unusually severe and persistent hyperinsulinism requiring subtotal pancreatectomy. " 06/01/2023 - "In this case report, we present the case of a 23-year-old woman with Beckwith-Wiedemann syndrome (BWS) who underwent major surgeries such as partial pancreatectomy, adrenalectomy, osteotomy, and paraganglioma resection at an early age. " 01/01/2016 - "We describe the case of an infant with Beckwith-Wiedemann syndrome and diazoxide-unresponsive HI, who had persistent hypoglycemia after two pancreatectomy surgeries. "