Beckwith Wiedemann Syndrome
National Organization for Rare Disorders, Inc.
- 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
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
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Washington, DC 20006
American Childhood Cancer Organization
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Kensington, MD 20895
National Cancer Institute Physician Data Query
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National Cancer Institute
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Neuroblastoma Children's Cancer Society
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Childhood Cancer Canada Foundation
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Ontario, M4T 1L9
OncoLink: The University of Pennsylvania Cancer Center Resource
3400 Spruce Street
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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
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
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Last Updated: 8/7/2007
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