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What is Beckwith-Wiedemann syndrome?

William D. Knopf, MD
Cardiology (Cardiovascular Disease)
Beckwith-Wiedemann syndrome is a rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor.
This answer is based on source information from National Cancer Institute.
Rick Sayegh
Rick Sayegh on behalf of MDLIVE
Internal Medicine

Beckwith-Wiedemann syndrome (BWS) is characterized by a big tongue, large birth weight, and multiple hernias.

Beckwith-Wiedemann syndrome is caused by a mutation in the gene that controls production of a protein insulin-like growth factor 2 (IGF2). IGF2 overproduction can also be found in sporadic (non-inherited) ACC. Researchers believe that too much IGF2 causes tumor cells to grow abnormally. Several clinical trials are in progress to treat ACC with drugs that block this biochemical pathway. At this time, most patients without a known family history Beckwith-Wiedemann syndrome do not need to be tested for these mutations. 

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