Children's Hospital Colorado

Beckwith-Wiedemann Syndrome

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a genetic condition that affects many parts of the body and increases the risk of childhood cancer. One of the first indications a child may have BWS is fetal macrosomia, an overgrowth syndrome that makes the infant considerably larger at birth.

What is fetal macrosomia?

Newborns weighing more than 8 pounds and 13 ounces are considered larger than average. This condition is called fetal macrosomia and affects about 9% of all babies. The risks associated with fetal macrosomia increase greatly when the birth weight reaches more than 9 pounds and 15 ounces.

Babies with macrosomia are usually taller than their peers during childhood, but their growth begins to slow around 8 years old.

How does Beckwith-Wiedemann syndrome affect other parts of the body?

Sometimes in children with Beckwith-Wiedemann syndrome, specific body parts on one side of the body can grow larger than on the other, leading to an uneven or asymmetrical appearance. This growth pattern is known as hemihypertrophy and usually becomes less obvious over time as the child continues to grow.

The growth pattern alone does not usually increase health risks, but kids with BWS have an increased chance of developing childhood cancer. While the majority of children with BWS do not develop cancer, those who do can often be treated successfully.

Some children with BWS also have developmental delays such as speech problems that are usually related to hearing loss or having an enlarged tongue, which is called macroglossia.

What causes Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is genetic, meaning it can be passed down from a parent through the genes. Genes are made up of deoxyribonucleic acid (DNA), which are made up of chromosomes. Genes form a kind of blueprint for the body and tell it how to form and function.

BWS usually results from the abnormal regulation of genes in chromosome 11. Most people receive one copy of this chromosome from each parent. In BWS, however, a child receives two copies from the same parent. This is called genomic imprinting. The abnormalities involving genes on chromosome 11 that undergo genomic imprinting are what cause most cases of Beckwith-Wiedemann syndrome.

What are Beckwith-Wiedemann syndrome symptoms?

Symptoms and signs of Beckwith-Wiedemann syndrome (BWS) can vary greatly between children. Some babies are born with an opening in the wall of the abdomen known as an omphalocele. This can allow intestines or organs to protrude through the bellybutton, which can lead to complications such as poor lung development, heart malformations and intestines that are slow to handle food.

Other abdominal wall defects, such as a soft out-pouching around the bellybutton, called an umbilical hernia, are also common. Some infants with BWS have macroglossia, an enlarged tongue, which can interfere with breathing, swallowing and speaking.

Other signs of BWS include:

  • Visceromegaly (large abdominal organs)
  • Creases or pits in the skin near the ears
  • Hypoglycemia (low blood sugar) in infancy
  • Kidney abnormalities

Children with Beckwith-Wiedemann syndrome are at an increased risk of developing tumors such as a kidney cancer known as Wilms tumor (also called nephroblastoma) and a liver cancer called hepatoblastoma, which is a type of solid tumor. Tumors develop in about 10% of people with BWS and almost always appear in childhood. Because most tumors in children with BWS are found early and successfully treated, life expectancy turns out to be average for the majority of patients.

Tests used for Beckwith-Wiedemann syndrome diagnosis

We will need to perform a genetic test to confirm a BWS diagnosis. For the test, we will need to get a DNA sample by swabbing the inside of the cheek or by taking a blood sample.

Some children with BWS have speech problems that are usually related to hearing loss or macroglossia (an enlarged tongue). Our pediatric otolaryngologists in the Ear, Nose and Throat Program will be able to devise the best treatment plans for these children based on their specific condition.

Treating cancer as part of Beckwith-Wiedemann syndrome treatment

Although more than 80% of children with BWS do not develop cancer, they are more likely than children without BWS to develop certain types of childhood cancers such as Wilms tumor, pancreatoblastoma and hepatoblastoma. In addition, children with BWS have also developed the following forms of cancer (although these forms are much more rare): ganglioneuroma, adrenocortical carcinoma, acute lymphoid leukemia, liver sarcoma, thyroid carcinoma, melanoma, rhabdomyosarcoma and mesoblastic nephroma.

Kids with BWS only appear to be at an increased risk of cancer during childhood, typically up to 4 years old. After this age, the risk of developing cancer drops to average levels.

The importance of regular cancer screening

The good news is that cancers such as Wilms tumor, hepatoblastoma and mesoblastic nephroma can usually be cured if diagnosed early enough. Being able to treat cancer in an early stage gives doctors a great advantage and allows them to use safer treatment options. That is why we recommend children with BWS get regular cancer screenings.

We look for cancer by using an abdominal ultrasound, which uses sound waves to take images of inside the abdomen. Children with BWS should get abdominal ultrasounds every 3 to 4 months until they reach the age of 10. We also recommend a blood test to measure alpha-fetoprotein (AFP) every 6 to 12 weeks until at least 4 years old. The level of these proteins can also be an indication of cancer.

Why choose us for treatment of Beckwith-Wiedemann syndrome?

Experts at the Surgical Oncology Program at Children's Hospital Colorado have experience managing all types of BWS-related tumors. We work with the Department of Pediatric Urology, Center for Cancer and Blood Disorders and Center for Children's Surgery to form a multidisciplinary team that can address the unique variations of your child’s BWS.

Within each department, we also have specialty programs and clinics like the Urologic Tumor Program and Adolescent and Young Adult Cancer Care Program. These programs were designed for specific forms of cancer, many of which are associated with BWS.

From diagnosis and cancer screening to cancer treatment, we're committed to your child and family. We'll work with specialists throughout the hospital to develop the most effective and comprehensive care plan based on your child's specific needs.