Beckwith-Wiedemann Syndrome

What is Beckwith-Wiedemann Syndrome (BWS)?

Beckwith-Wiedemann Syndrome (BWS) is a genetic disorder that affects your child’s growth and increases their risk of developing certain childhood cancers.

BWS, which is also called Beckwith-Wiedemann Spectrum, is a relatively rare disorder. Each year an estimated 11,000 children worldwide are born with BWS. This is an estimate because there are people with BWS who don’t have noticeable physical differences. As a result, their parent or parents may not seek the genetic evaluation and possible testing that are key to a formal BWS diagnosis.

While BWS can’t be cured, there are many medical treatments to correct physical differences and to treat medical conditions.

What is a common characteristic of Beckwith-Wiedemann Syndrome?

Many children who have BWS have physical differences that you and your healthcare provider might notice on prenatal ultrasounds. For the most part, however, you and your healthcare provider will notice your child has BWS characteristics as soon as they are born and/or by age 2. Some of those characteristics are:

• Your child has macroglossia (large tongue). If your child has macroglossia, their tongue might appear as if it is too big for their mouth.
• Your child’s birth weight is above average. Children with BWS are often are above the 95th percentile for weight.
• Your child has pink or red birthmarks on their faces. These birthmarks are sometimes called angel kisses or stork’s bite. Not every child born with a stork bite or angel kiss has BWS.
• Your child has tiny creases in their earlobes or tiny indentations in their outer ear.

Is BWS a developmental disability?

Unless a child has had untreated low blood sugar or other medical complication, there’s no indication that Beckwith-Wiedemann Syndrome affects children’s intellectual ability. Some children who have physical differences such as macroglossia (large tongue) that can affect speech may have some developmental delays.

What causes Beckwith-Wiedemann Syndrome?

Researchers link BWS to changes in the chromosome that regulates growth. Approximately 80% of children born with BWS don’t have a family history of BWS. Studies show 10% to 15% of children have a family history of Beckwith-Wiedemann Syndrome, meaning one parent has passed on genetic changes that drive BWS.

What are common medical conditions or symptoms of Beckwith-Wiedemann Syndrome?

Children with BWS may have the following medical conditions:

• Omphalocele. This condition happens when your child has a weakness in their stomach wall near their umbilical cord that allows their internal organs to develop outside their stomach.
• Umbilical hernias. Umbilical hernias happen when part of your child’s intestine, along with fat and fluid, creates a sac that pushes through an opening in the muscle of your child’s stomach.
• Hypoglycemia (low blood sugar).
• Hemihyperplasia. One part or side of your child’s body might be larger than the other part or side. For example, one arm might appear bigger than the other arm.
• Kidney issues including having an enlarged kidney, duplicated tubes, and ducts or widening tubes and ducts in your child’s kidney, cysts and kidney stones.
• Enlarged liver.

Can children with BWS develop other medical conditions?

Overall, children with BWS have a 7.5% chance of developing cancer between birth and age 8. Here are cancers your child might develop:

• Wilms tumor. This is a type of kidney cancer that affects children.
• Adrenocortical carcinoma. This is a cancer of the outer layer of your child’s adrenal gland.
• Rhabdomyosarcoma. This is a rare type of cancer that affects muscle tissue.
• Hepatoblastoma. This is a form of liver cancer.
• Non-cancerous tumors.

How do healthcare providers screen children with BWS for signs of cancer?

Healthcare providers can do genetic examinations and tests to assess your child’s risk for developing certain cancers. If your child has a suspected or confirmed BWS diagnosis, your provider will work with you on a screening plan. That plan may include regular blood tests and abdominal ultrasounds.

How do healthcare providers diagnose Beckwith-Wiedemann Syndrome?

Healthcare providers diagnose BWS by evaluating your child’s physical differences and medical conditions. They may recommend genetic testing to confirm the preliminary diagnosis. Providers also use genetic test results to understand your child’s individual situation so they can tailor your child’s treatment accordingly.

Genetic test results can help providers tailor your child’s treatment to their individual need.

Can my child be diagnosed with BWS before they’re born?

While pre-natal ultrasounds may reveal some signs of medical conditions that might be linked to BWS, healthcare providers usually can’t diagnose BWS before your child is born.

Are there prenatal genetic tests for Beckwith-Wiedemann Syndrome?

Yes, if your ultrasounds reveal potential signs of BWS, healthcare providers use amniocentesis and chorionic villus sampling to detect potential BWS before your child is born. Pre-natal genetic testing is a personal decision. Your provider or a genetic counselor will discuss the tests’ potential risks and benefits and answer your questions about the tests’ processes. You have final say about going forward with pre-natal genetic tests for BWS.

How is BWS treated?

Healthcare providers can treat most BWS symptoms. For example:

• Stomach wall surgery to treat omphalocele or umbilical hernias.
• Medication can treat hypoglycemia.
• Tongue reduction surgery to treat macroglossia (large tongue).
• Orthotics to reduce the appearance of differences in the length of your child’s legs. Or other methods to treat any leg-length differences.

How can I reduce my risk of having a child with BWS?

Unfortunately, there’s no sure way to prevent most incidences of BWS. Approximately 80% of children born with BWS don’t have family members who have the syndrome. Researchers believe most of those cases happen at random and stem from changes in your child’s cells during your pregnancy.

What can I expect if my child has BWS?

Beckwith-Wiedemann Spectrum is a complex syndrome that can affect your child in different ways and at different times as they grow from infancy until age 8.

For example, if your child has omphalocele, where their internal organs grow outside their stomach, healthcare providers may recommend you delay taking your newborn child home until they have surgery. On the other hand, children who have hemihyperplasia, which causes one part or side of their body to be larger than the other side, may outgrow the physical difference.

All children with BWS have more risk for developing childhood cancers and will need regular checkups and tests so providers can find and treat cancer before it spreads.

Regardless of your child’s specific needs, your healthcare provider will recommend medical treatment and other steps to help you manage your child’s BWS symptoms.

How do I take care of my child if they have BWS?

While Beckwith-Wiedemann Syndrome can affect different children in different ways, there are a few medical conditions that may affect most children who have BWS:

• All children with BWS have more risk for developing childhood cancers and will need regular checkups and tests so providers can find and treat cancer before it spreads.
• Approximately 90% of children with BWS have macroglossia (large tongue), which could affect their ability during infancy to breast or bottle feed and to sleep.
• Between 45% to 65% of children with BWS have overgrowth (being big for their age) or lateralized overgrowth (where one part or side of their body is larger than the other side.). While overgrowth typically slows down in late childhood, children with lateralized growth may need surgery to correct the imbalance.

When should I see my child’s healthcare provider?

You’ll work with a team of healthcare providers who’ll treat your child’s specific BWS conditions and manage regular screening tests. Ask your child’s provider about symptoms that might be signs of new or worsening BWS conditions.

What questions should I ask my doctor?

Beckwith-Wiedemann Spectrum refers to a wide range of medical conditions. You’ll have a lot of information to take in. Here are some questions to help you begin:

• What is BWS?
• How will it affect my child?
• What are the treatments for my child’s conditions?
• What are those treatment’s side effects?
• Will my child outgrow some of their symptoms?
• Will my child have cancer?
• What caused this?

A note from Cleveland Clinic

You may have known before your child was born that they had Beckwith-Wiedemann Syndrome. Or your child might have been diagnosed at birth. Regardless of when you knew, it may have come as a shock leaving you with lots of questions about what this means for your child. BWS can’t be cured. But medical treatments and other care can help resolve most of BWS’ symptoms. Ask your healthcare provider what medical challenges you and your child may face. They’ll have insight into your child’s specific situation so you understand how BWS may affect your child and what you can do to help your child to thrive.