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Brynlee was diagnosed with Beckwith-Wiedemann Syndrome and underwent a tongue reduction surgery. Read more about her experience at UPMC Children's Hospital of Pittsburgh.
Beckwith-Wiedemann syndrome is a relatively rare growth disorder, seen in about 1 in every 11,000 births. The condition is congenital, meaning that children are born with it. It can cause:
Not every child with the syndrome has all the symptoms; some may only display one or two symptoms.
Most children with the condition grow to be healthy, average-sized adults and lead normal lives. They may be taller and bigger than their classmates as children, but their growth tends to taper off by adolescence.
The syndrome is caused by a genetic mutation of chromosome 11 (11p15).
In many cases, a child with the syndrome will have a normal chromosome 11 in the cells of some parts of the body and a mutated chromosome 11 in other parts. This accounts for the range of symptoms experienced by children with the syndrome.
Between 10 and 15 percent of cases of Beckwith-Wiedemann syndrome are inherited from a parent, but most cases are new genetic abnormalities.
Symptoms can include:
A doctor can often diagnose this syndrome at birth if several symptoms are present. Sometimes a physical exam is enough to make the diagnosis.
Further diagnostic tests include:
It's important to be diagnosed early since children born with the condition are more likely to develop tumors that could be cancerous. About 10 percent of people with Beckwith-Wiedemann syndrome develop tumors, typically in childhood.
The most common are:
Cancers less commonly associated with Beckwith-Wiedemann syndrome include:
Treatment depends on which symptoms your child has. Beckwith-Wiedemann syndrome treatment options may include:
Ongoing screening for tumors, including blood tests and abdominal ultrasounds. This is especially important because the tumors associated with Beckwith-Wiedemann syndrome are curable if caught at an early stage.
UPMC Children's Hospital of Pittsburgh sees children with Beckwith-Wiedemann syndrome in our Pediatric Cancer Predisposition Program. Call 412-692-5055 to learn more and to make an appointment.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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