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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 109 free, full-text research articles on human participants. First 3 results:

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

Go To URL
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
 

Author(s): Toshiyuki Maeda, Ken Higashimoto, Kosuke Jozaki, Hitomi Yatsuki, Kazuhiko Nakabayashi, Yoshio Makita, Hidefumi Tonoki, Nobuhiko Okamoto, Fumio Takada, Hirofumi Ohashi, Makoto Migita, Rika Kosaki, Keiko Matsubara, Tsutomu Ogata, Muneaki Matsuo, Yuhei Hamasaki, Yasufumi Ohtsuka, Kenichi Nishioka, Keiichiro Joh, Tsunehiro Mukai, Kenichiro Hata, Hidenobu Soejima

Journal: Genet. Med.. 2014 Dec;16(12):903-12.

 

Expression of imprinted genes is regulated by DNA methylation of differentially methylated regions (DMRs). Beckwith-Wiedemann syndrome is an imprinting disorder caused by epimutations of DMRs at 11p15.5. To date, multiple methylation defects have been reported in Beckwith-Wiedemann ...

Last Updated: 4 Dec 2014

Go To URL
Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer.
 

Author(s): Chih-Ping Chen, Yi-Ning Su, Shee-Uan Chen, Tung-Yao Chang, Pei-Chen Wu, Schu-Rern Chern, Peih-Shan Wu, Yu-Ling Kuo, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2014 Mar;53(1):90-4.

 

We report prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome (BWS) in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer.

Last Updated: 28 Apr 2014

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

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: 9 Jul 2015

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

Status: Recruiting

Condition Summary: Pregnant Women Requiring Amniocentesis

 

Last Updated: 27 Jan 2015

Go to URL

Last Updated: 17 Nov 2015

Go to URL