Beckwith–Wiedemann

Beckwith–Wiedemann syndrome (BWS) is a genetic disorder often characterized by an overgrowth of body parts. The condition is present from birth and affects both males and females.

Symptoms

The symptoms of BWS can vary greatly from one person to another. Common symptoms include macroglossia (an abnormally large tongue), macrosomia (abnormally large body size), omphalocele (a birth defect in which an infant's intestine or other abdominal organs are outside of the body), hypoglycemia (low blood sugar), and ear creases or pits. Some individuals with BWS may also have an increased risk of developing certain types of cancer, particularly in childhood.

Causes

BWS is caused by various changes in the genes on chromosome 11. Most cases are due to changes in a region of chromosome 11 that contains the H19 and IGF2 genes. These genes are involved in regulating growth and development. In some cases, BWS can be inherited from a parent. However, most cases occur as random events during the formation of reproductive cells or in early embryonic development.

Diagnosis

Diagnosis of BWS is often based on the characteristic physical features. In some cases, the diagnosis can be confirmed with genetic testing.

Treatment

Treatment for BWS is symptomatic and supportive. It may include surgery to reduce the size of the tongue or to repair the omphalocele. Regular monitoring for hypoglycemia and certain types of cancer is also recommended.

See also

• Genetic disorder
• Chromosome 11
• H19
• IGF2

References

Beckwith–Wiedemann Resources
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