National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Beckwith-Wiedemann Syndrome is not the name you expected.
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person. However, in many individuals, associated features include above-average birth weight and increased growth after birth (macrosomia), an unusually large tongue (macroglossia), enlargement of certain internal organs (organomegaly), and abdominal wall defects (omphalocele or umbilical hernia). BWS may also be associated with low blood sugar levels within the first few days (neonatal hypoglycemia), or beyond (hyperinsulinism), distinctive grooves in the ear lobes and other facial abnormalities, abnormal enlargement of one side or structure of the body (hemihyperplasia/hemihypertrophy) resulting in unequal (asymmetric) growth, and an increased risk of developing certain childhood cancers, most commonly Wilms tumor and hepatoblastoma.
Approximately 85 percent of people with BWS have genetic changes that appear to occur randomly (sporadically). Familial transmission occurs in approximately 10-15 percent of people with this syndrome. Researchers have determined that BWS results from various abnormalities affecting the proper expression of certain genes that control growth within a specific region of chromosome 11.
Beckwith-Wiedemann Children's Foundation International
- 9031 Cascadia Ave
- Everett, WA 98208
- Tel: (425)338-4610
- Fax: (425)357-8575
- Email: BWCFKathy@comcast.net
- Website: http://beckwithwiedemann.org/
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 2/22/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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