Learn About Beckwith-Wiedemann Syndrome

What is the definition of Beckwith-Wiedemann Syndrome?
Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs, creases or pits in the skin near the ears, and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma. Some people only have one symptom while others may have many of the symptoms. The cause of BWS is complex and is different for different people, but involves genes that control body growth. The genes, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes, are located on chromosome 11. In most cases BWS is caused by problems with the genomic imprinting of these genes. Genomic imprinting refers to having some genes that are active (expressed) only when inherited from the father and others that are active only when inherited from the mother. Less commonly, changess in the CDKN1C gene or larger changes to chromosome 11, such as a translocation, deletion, or duplication, may cause BWS. Diagnosis of BWS is based on symptoms with the support of genetic testing. At present however, there is no clearly accepted diagnostic criteria as doctors are trying to understand the full spectrum of possible symptoms.
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What are the alternative names for Beckwith-Wiedemann Syndrome?
  • Beckwith-Wiedemann syndrome
  • EMG Syndrome
  • Exomphalos macroglossia gigantism syndrome
  • Wiedemann-Beckwith Syndrome (WBS)
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What are the latest Beckwith-Wiedemann Syndrome Clinical Trials?
Coordination of Rare Diseases at Sanford
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
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Electrophysiological Changes in the Median Nerve in the Presence and Absence of the Palmaris Longus
Summary: One of the most important causes of carpal tunnel syndrome is increased pressure in the canal. With the loading of the palmaris longus at 20 degrees of wrist extension, the pressure within the canal increases more than the load exerted on other flexor tendons. Several studies have shown the association of carpal tunnel syndrome with the presence of palmaris longus. In this study, our aim is to inv...
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Published Date: May 10, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Beckwith-Wiedemann Syndrome?
Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.
Summary: Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.
A rare case of reverse midgut rotation and jejunal transmesenteric internal hernia in an adult with Beckwith-Wiedemann syndrome.
Summary: A rare case of reverse midgut rotation and jejunal transmesenteric internal hernia in an adult with Beckwith-Wiedemann syndrome.
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Case Report: Liraglutide for Weight Management in Beckwith-Wiedemann Syndromic Obesity.
Summary: Case Report: Liraglutide for Weight Management in Beckwith-Wiedemann Syndromic Obesity.