Beckwith-Wiedemann Syndrome

Common Name(s)

Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. The condition is present from birth. Newborns may be born with omphalocele and/or develop low blood sugar (hypoglycemia). Beckwith-Wiedemann syndrome is also associated with an increased rate of tumor (e.g., Wilm's tumor, adrenal carcinoma) development. Complications in infancy can become life threatening, however children with this syndrome tend to do well and have a normal to near normal learning ability.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Beckwith-Wiedemann Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Beckwith-Wiedemann Syndrome" returned 113 free, full-text research articles on human participants. First 3 results:

TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
 

Author(s): Jian Chen, Zhi-Xing Yao, Jiun-Sheng Chen, Young Jin Gi, Nina M Muñoz, Suchin Kundra, H Franklin Herlong, Yun Seong Jeong, Alexei Goltsov, Kazufumi Ohshiro, Nipun A Mistry, Jianping Zhang, Xiaoping Su, Sanaa Choufani, Abhisek Mitra, Shulin Li, Bibhuti Mishra, Jon White, Asif Rashid, Alan Yaoqi Wang, Milind Javle, Marta Davila, Peter Michaely, Rosanna Weksberg, Wayne L Hofstetter, Milton J Finegold, Jerry W Shay, Keigo Machida, Hidekazu Tsukamoto, Lopa Mishra

Journal: J. Clin. Invest.. 2016 Feb;126(2):527-42.

 

Beckwith-Wiedemann syndrome (BWS) is a human stem cell disorder, and individuals with this disease have a substantially increased risk (~800-fold) of developing tumors. Epigenetic silencing of β2-spectrin (β2SP, encoded by SPTBN1), a SMAD adaptor for TGF-β signaling, is causally ...

Last Updated: 2 Feb 2016

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Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.
 

Author(s): Leda Paganini, Nicole Carlessi, Laura Fontana, Rosamaria Silipigni, Silvia Motta, Stefano Fiori, Silvana Guerneri, Faustina Lalatta, Anna Cereda, Silvia Sirchia, Monica Miozzo, Silvia Tabano

Journal: Epigenetics. 2015 ;10(7):643-9.

 

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has ...

Last Updated: 27 Jun 2015

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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
 

Author(s): Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot-Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

Journal: Hum. Mol. Genet.. 2014 Nov;23(21):5763-73.

 

Isolated gain of methylation (GOM) at the IGF2/H19 imprinting control region 1 (ICR1) accounts for about 10% of patients with BWS. A subset of these patients have genetic defects within ICR1, but the frequency of these defects has not yet been established in a large cohort of BWS ...

Last Updated: 9 Oct 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Beckwith-Wiedemann Syndrome" returned 11 free, full-text review articles on human participants. First 3 results:

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
 

Author(s): Chih-Ping Chen

Journal: Taiwan J Obstet Gynecol. 2012 Jun;51(2):186-91.

 

With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or prenatal-onset overgrowth can ...

Last Updated: 16 Jul 2012

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Adrenal masses associated with Beckwith Wiedemann syndrome in the newborn.
 

Author(s): Devendra V Taide, Pradnya S Bendre, Rajeev Redkar, Sandeep Hambarde

Journal: Afr J Paediatr Surg. ;7(3):209-10.

 

Adrenal cystic lesions are rare and may be associated with both complete and incomplete Beckwith syndrome (BWS). Because the adrenal gland often houses malignant lesions, differentiation between benign and malignant lesions of the gland, although usually difficult, is very necessary ...

Last Updated: 22 Sep 2010

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Beckwith-Wiedemann syndrome.
 

Author(s): Rosanna Weksberg, Cheryl Shuman, J Bruce Beckwith

Journal: Eur. J. Hum. Genet.. 2010 Jan;18(1):8-14.

 

Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and ...

Last Updated: 16 Dec 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia
 

Status: Available

Condition Summary: Congenital Hyperinsulinism; Beckwith-Wiedemann Syndrome; Insulinoma

 

Last Updated: 18 Feb 2016

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Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
 

Status: Recruiting

Condition Summary: Pregnant Women Requiring Amniocentesis

 

Last Updated: 23 Feb 2016

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Last Updated: 17 May 2016

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