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

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

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Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1.
 

Author(s): Michela Baiocchi, Fatimah Sireen Yousuf, Khalid Hussain

Journal: Pediatrics. 2014 Apr;133(4):e1082-6.

 

Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with ...

Last Updated: 2 Apr 2014

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Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism.
 

Author(s): Pablo Laje, Andrew A Palladino, Tricia R Bhatti, Lisa J States, Charles A Stanley, N Scott Adzick

Journal: J. Pediatr. Surg.. 2013 Dec;48(12):2511-6.

 

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).

Last Updated: 9 Dec 2013

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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 9 free, full-text review articles on human participants. First 3 results:

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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Beckwith-Wiedemann syndrome and isolated hemihyperplasia.
 

Author(s): Marcus Vinícius de Matos Gomes, Ester Silveira Ramos

Journal: Sao Paulo Med J. 2003 May;121(3):133-8.

 

Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of ...

Last Updated: 15 Aug 2003

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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: 9 Jul 2015

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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: 27 Jan 2015

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Last Updated: 14 May 2015

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