Beckwith-Wiedemann Syndrome (BWS) is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal and continue to grow and gain weight at an unusual rate during childhood. Growth begins to slow by about age 8 and adults with this condition are not always unusually tall. In some children with Beckwith-Wiedemann Syndrome specific parts of the body may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern is known as hemihyperplasia.
Beckwith-Wiedemann Syndrome affects an estimated 1 in 11,000 newborns worldwide. The condition may actually be more common than this estimate because some people with mild or unusual symptoms are never diagnosed. The signs and symptoms of Beckwith-Wiedemann Syndrome vary among affected individuals. Many people with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Other abdominal wall defects, such as a soft out-pouching around the belly button (an umbilical hernia), are also common. Most infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatablastoma. Tumors develop in about 5-10 percent of people with this condition and almost always appear in childhood. Older children and adults are much less likely to have serious medical problems associated with the condition. Screening protocols are an important part of medical issues for the BWS family. Current protocols are as follows:
Abdominal ultrasounds and AFP blood testing every 3 months until age 4
Abdominal ultrasounds every 3 months until age 8
These protocols have been in place for decades and have saved countless lives by catching the two most common cancers to which BWS children are prone (Wilms tumor and hepatablastoma) early. This allows treatment to begin at a time when the malignancy is small and very treatable.