Beckwith wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth and an increased risk of childhood cancer. The syndrome is caused by various changes in the activity of genes in a specific region of chromosome 11.
Signs and Symptoms[edit | edit source]
The signs and symptoms of Beckwith-Wiedemann syndrome vary; some individuals may have many characteristics of the syndrome, while others may have only a few. Common features include a large body size, enlarged organs, macroglossia (an abnormally large tongue), omphalocele (a birth defect where an infant's intestine or other abdominal organs are outside of the body), and hypoglycemia (low blood sugar) in infancy.
Causes[edit | edit source]
Beckwith-Wiedemann syndrome is caused by changes in the activity (expression) of certain genes in a region of chromosome 11. Most often, these changes occur as random events during the formation of reproductive cells (eggs or sperm) or in early embryonic development.
Diagnosis[edit | edit source]
Diagnosis of Beckwith-Wiedemann syndrome is based on clinical features and may be confirmed by genetic testing.
Treatment[edit | edit source]
Treatment for Beckwith-Wiedemann syndrome is symptomatic and supportive. It may include surgery for omphalocele, tongue reduction surgery for macroglossia, and treatment for hypoglycemia.
Prognosis[edit | edit source]
The prognosis for individuals with Beckwith-Wiedemann syndrome varies depending on the specific symptoms and severity in each person.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Beckwith wiedemann syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
