Main Features of BWS

The features of Beckwith-Wiedemann syndrome include:

• Large birth weight and length (macrosomia)
• Overgrowth of one side or one part of the body (hemihypertrophy/hemihyperplasia))
• An enlarged tongue (macroglossia).
• Low levels of sugar in bloodstream (hypoglycemia) during the newborn period and sometimes prolonged hypoglycemia (due to hyperinsulinism).
• Defects in the abdominal wall (such as umbilical hernia or an omphalocele, where the intestines and sometimes other abdominal organs protrude from the abdominal wall outside the body)
• Enlarged abdominal organs, such as the kidneys, liver and pancreas.
• Pits or creases in the earlobe or behind the ear.
• An increased risk of developing certain cancers during childhood (most which can be cured with proper treatment).

Cancer Risks

Children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy are at an increased risk of developing certain cancers during childhood. The risk of developing cancer is estimated to be 5 to 10 percent, but that risk may vary depending on the specific genetic cause of the child’s condition.

• Wilms' tumor, a cancer of the kidney, is the most common cancer found in these children. Ninety five percent of Wilms' tumors occur in Beckwith-Wiedemann syndrome or hemihypertrophy patients by age 7. 
• Hepatoblastoma, a cancer of the liver, is the second-most common cancer in patients with Beckwith-Wiedemann syndrome or isolated hemihypertrophy. This cancer usually develops by 2 years of age. 
• Rarely, adrenocortical carcinoma, neuroblastoma or rhabdomyosarcoma.

*This information is for educational purposes and is not intended for diagnosis. Please see your doctor for treatment and diagnosis if you suspect your child has BWS.