NORD gratefully acknowledges Jennifer Kalish, MD PhD, Attending Physician, Division of Human Genetics, Kelly Duffy, MPH, and Carolyn Lye, The Children's Hospital of Philadelphia, for the preparation of this report.
Synonyms of Beckwith-Wiedemann Syndrome
- EMG Syndrome
- Exomphalos-Macroglossia-Gigantism Syndrome
- Hypoglycemia with Macroglossia
- Omphalocele-Visceromegaly-Macroglossia Syndrome
- Visceromegaly-Umbilical Hernia-Macroglossia Syndrome
- Wiedemann-Beckwith Syndrome
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.
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