Beckwith Wiedemann Syndrome
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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms Back to top
- EMG Syndrome
- Exomphalos-Macroglossia-Gigantism Syndrome
- Hypoglycemia with Macroglossia
- Macroglossia-Omphalocele-Visceromegaly Syndrome
- Omphalocele-Visceromegaly-Macroglossia Syndrome
- Visceromegaly-Umbilical Hernia-Macroglossia Syndrome
- Wiedmann-Beckwith Syndrome
Disorder Subdivisions Back to top
General Discussion Back to top
Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features include above-average birth and weight and increased growth after birth (postnatally), an usually large tongue (macroglossia), enlargement of certain internal organs (visceromegaly), and protrusion of a portion of the intestines and abdominal organs through a tear in the wall of the stomach or bellybutton (abdominal wall defects). BWS may also be associated with low blood sugar levels within the first few days or the first month of life (neonatal hypoglycemia), advanced bone age, particularly up to age four; distinctive grooves in the ear lobes and other facial abnormalities, abnormal enlargement of one side or structure of the body (hemihyperplasia) may occur, resulting in unequal (asymmetric) growth, and an increased risk of developing certain childhood cancers.
In approximately 85 percent of cases, BWS results from genetic changes that appear to occur randomly (sporadically). Approximately 10-15 percent of cases of this syndrome run in families and show autosomal dominant inheritance. Researchers have determined that BWS results from various abnormalities affecting the proper expression or structure of certain genes within a specific region of chromosome 11.
Resources Back to top
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1660 L Street, NW, Suite 301
Washington, DC 20036
American Childhood Cancer Organization
10920 Connecticut Ave
Kensington, MD 20895
National Cancer Institute Physician Data Query
Office of Communications and Education
Public Inquiries Office
6116 Executive Blvd
Bethesda, MD 20892-8322
National Cancer Institute
6116 Executive Blvd
Bethesda, MD 20892-8322
Neuroblastoma Children's Cancer Society
P.O. Box 957672
Hoffman Estates, IL 60195
Childhood Cancer Foundation - Candlelighters Canada
21 St. Clair Avenue East, Suite 801
Toronto, Ontario, Intl M4T 1L9
Tel: (416) 489-6440
Fax: (416) 489-9812
Tel: (800) 363-1062
OncoLink: The University of Pennsylvania Cancer Center Resource
3400 Spruce Street
Philadelphia, PA 19104-4283
CureSearch for Children's Cancer
4600 East West Highway, Suite 600
Bethesda, MD 20814-3457
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Beckwith-Wiedemann Family Forum
105 Yehudah St. Apt 2
Modi'in, Intl 71700
Tel: 011 972-8-971-4544
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Beckwith-Wiedemann Children's Foundation
9031 Cascadia Ave
Everett, WA 98208
4581 Magnolia Dr.
Suffolk, VA 23435
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 8/7/2007
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