Beckwith-Wiedemann syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at August 19, 2016
StartDiseasesBeckwith-Wiedemann syndrome

A growth disorder, Beckwith-Wiedemann syndrome results in symptoms that can affect various parts of the body, including larger-than-normal body size, large organs and a variety of symptoms. The disorder is congenital, meaning that it is present from birth. The symptoms and signs of it can vary from person to person.


Definition & Facts

Beckwith-Wiedemann syndrome is a genetic disorder that affects around one in 13,700 infants worldwide. In the United States, around 300 children are born with the disorder each year. Some experts believe that the syndrome may actually occur more frequently because those who have milder forms of the condition may not be diagnosed with it.

Around 85 percent of the cases of Beckwith-Wiedemann Syndrome involve only one diagnosed person in a family, meaning that family history is a factor. In another 15 percent of the cases, families have more than one person diagnosed with the condition. Depending on the genetic cause, parents who have one child with the disorder may have a higher risk of having a second child who also has the condition. In rare cases, there may not be a chromosome abnormality present, leaving doctors unclear about why the person has Beckwith-Wiedemann syndrome.

Symptoms & Complaints

Children who have the disorder are generally much larger than others their age when they are babies. Infants may be born with higher birth weight, and they might be longer than normal. They remain taller until around age eight when the height difference begins evening out.

Adults who have Beckwith-Wiedemann syndrome are not taller than average. Children may also have creases in their earlobes, red birthmarks that appear on the eyelids or the forehead and abnormally large tongues (macroglossia). Some infants also have hernias in their abdominal wall that might cause the organs to protrude out, sometimes through the belly button. They might also have larger-than-normal organs.

Children might suffer from low blood sugar. Around 10 percent of children who have it may also develop both noncancerous and cancerous tumors of the kidneys and liver. When people do develop kidney cancer or liver cancers, they most often do so in childhood rather than as adults. Asymmetrical growth (hemihypertrophy) is also common with one side of the body growing faster than the other. As the child grows older, the asymmetry will normally become less apparent.


Beckwith-Wiedemann syndrome has several potential genetic causes. Some people suffer from structural changes on chromosome 11. Others have genetic mutations on the 11th chromosome that cause problems with the regulation of proteins. Around 50 percent of the cases are caused by problems with the attachment of methyl groups to certain areas along the DNA, a process called DNA methylation.

People normally inherit one gene from each parent. In about 20 percent of Beckwith-Wiedemann cases, the child inherits both gene copies from his or her father rather than one gene from each parent. Rarer causes of the syndrome include mutations in the CDKN1C gene (Cyclin-dependent kinase inhibitor 1C), which instructs cells about synthesizing a growth factor or growth-controlling protein.

In 1 percent of the cases, people have other abnormalities with their chromosomes such as deletions, chromosomal translocations, or abnormal duplications. Around 10 percent of cases involve the syndrome being passed down through families.

Diagnosis & Tests

If Beckwith-Wiedemann syndrome is suspected, doctors often begin by doing physical examinations of the child. This exam will include comparing the child's size with that of other children his or her age, looking for creasing of or near the earlobes and checking the tongue to see if it is larger than normal. The doctor may then test the baby's blood to see if the baby has low blood sugar.

Ultrasounds of the baby's abdomen are also commonly performed so that the doctor can check to see if there are abnormalities in the abdominal wall as well as if the organs are abnormally large. If the doctor makes a clinical diagnosis of the disorder, he or she may confirm it by sending off blood samples for chromosomal analysis. The lab will then look for the abnormalities on chromosome 11 that are commonly present with the disorder.

Because there is such a variety of symptoms for children who have Beckwith-Wiedemann syndrome, and there is not a straightforward diagnostic test, physicians may diagnose a child with the disorder if the child has at least two out of the five major characteristic features. These include an enlarged tongue, abdominal wall defects, large body size, creased ears, and low blood sugar.

Treatment & Therapy

Infants who have Beckwith-Wiedemann syndrome and who have low blood sugar may require the intravenous administration of medications to treat it. If the low blood sugar continues, the infant may have to take medication for it on an ongoing basis. Children who have hernias in their abdominal walls or abdominal walls that haven't closed completely will require surgery to repair them.

Some people who have asymmetrical growth may develop scoliosis, so the treating doctors will watch for that and will treat it if it appears. Those who develop cancerous tumors of the kidney or liver may require chemotherapy or radiation along with surgery to remove the tumors.

The treatment for the condition is primarily focused on managing the associated conditions and symptoms of the syndrome itself as they arise. Because children who have Beckwith-Wiedemann syndrome have higher risks of developing cancer, cancer screenings are normally performed on children with the disorder during early childhood so that cancer, if present, can be caught early.

Prevention & Prophylaxis

As a congenital condition, there is nothing that people can do to prevent Beckwith-Wiedemann syndrome from occurring. Some parents who are at risk for having children with the disorder opt for genetic testing as well as prenatal diagnosis of their fetuses in utero. Parents who have one child who has Beckwith-Wiedemann syndrome may want to go through genetic counseling before they have other children.

Children who do have the disorder normally grow up to have a high quality of life. By treating the individual symptoms, the disease may be kept in check. People with Beckwith-Wiedemann syndrome enjoy normal lifespans, and the disorder becomes less noticeable as the children grow into adulthood.