What Is Beckwith-Wiedemann Syndrome?

Beckwith-Wiedemann syndrome (BWS) is a congenital condition affecting growth, which means a child will have the condition at birth. It is known as an overgrowth syndrome and may involve several parts of the body. Infants impacted by BWS are often much larger than other children their age.

Like many medical syndromes, there’s a range of signs and symptoms an individual may have, and the severity may vary from one person to another. For example, although some children may have several characteristic features of BWS, other children may only demonstrate one or two of the hallmark traits.

Approximately 1 in every 10,500 to 13,700 newborns around the world in diagnosed with Beckwith-Wiedemann syndrome. But this may undercut the true prevalence of BWS, since people who have minor cases of the condition may never be diagnosed.

BWS impacts both males and females in equal numbers.

Beckwith-Wiedemann Syndrome Symptoms

WS was first noted in medical literature in the 1960s by Drs. J. Bruce Beckwith and Hans-Rudolf Wiedemann. Initial findings of the condition mentioned a handful of ways it could affect the body. However, over the years, the medical community has recognized that BWS can involve many systems of the body; patients can display a variety of overgrowth concerns and physical qualities as well.

Children with Beckwith-Wiedemann syndrome may be larger than other children their age, but overgrowth tends to abate around age 8; adults with BWS are likely to be of average height.

Symptoms include:

• Abnormally increased birth height and weight
• Overgrowth on one side of the body (hemihyperplasia)
• Overgrowth of one part of the body
• Enlarged tongue
• Low blood sugar (hypoglycemia)
• Too much insulin (hyperinsulinism)
• Abnormalities in the abdominal wall like a hernia or omphalocele (a condition where intestines and organs are located outside of the abdomen)
• Large abdominal organs like the kidney and liver
• Kidney changes
• Distinctive grooves or pits in the earlobes or the area behind the ears
• Increased risk of cancer, especially in childhood

Individuals with BWS usually live a normal lifespan. However, there are two life-threatening symptoms associated with BWS. First, children with BWS are at greater risk of developing malignant tumors, including a rare type of kidney cancer known as Wilms tumor, cancer of the muscle tissues, or liver cancer.

Second, infants may develop prolonged low blood sugar, or hypoglycemia, due to the presence of too much insulin. Early detection of the signs and symptoms of BWS is key to helping individuals live a normal lifespan.

Causes

BWS is associated with defects in the genes on 11p—the shorter of the two arms of chromosome 11. The syndrome is also called 11p overgrowth spectrum because of this link and the range of symptoms that can occur.

The methods by which the defects occur are complicated and not confirmed.

Some ideas include:

• Abnormalities in gene expression
• Changes in the methylation cycle
• An imbalance of active genes on chromosome 11,
• Genetic mutations

Approximately 10% to 15% of BWS cases are passed down through families.

Since the genetic factors responsible for the development of BWS can be difficult to understand, you may benefit from seeking the services of a geneticist to answer your questions and concerns.

Diagnosis

To diagnose BWS, your physician or healthcare team will look for the distinguishing features of the condition. Often, newborns have noticeable characteristics associated with BWS, which allows the doctor to make a clinical diagnosis based on the identifiable signs and symptoms.

Findings such as abnormalities in the abdominal wall, an abnormal increase in height and weight, and an enlarged tongue are clues suggesting a child may have BWS. 

To confirm a diagnosis, however, the doctor will likely need to look at the patient’s medical history, symptom profile, complete a physical exam, and review any corresponding laboratory results.

Typically, the doctor will recommend genetic testing, which may also explain the cause of BWS in the child. Additionally, genetic testing can help determine if and how BWS is passed through family members and if there’s a risk of other children inheriting the condition.

In some instances, testing may be performed before the birth of the child. One example of a testing method, which may show early signs of BWS, is an ultrasound done during pregnancy. This method of imaging may show features like enlarged organs, large fetal size, enlarged placenta, and more. Should parents want more detailed information, additional prenatal testing is available.

Treatment

Generally, the treatment of BWS involves a combination of symptom management, surgical procedures, and remaining vigilant about the possibility of tumor formations. Interventions include:

• Monitoring of blood sugar in infants with suspected BWS
• Intravenous treatments or other medications when low blood sugar is present
• Surgical repair of the abdominal wall
• Surgery to reduce tongue size if it interferes with feeding or breathing
• Routine tumor screenings via blood tests and ultrasounds of the abdomen
• If tumors are present, your doctor will refer you to a pediatric oncologist
• Screening and management of scoliosis when a child has an overgrowth on one side of the body
• Referral to applicable specialists when there’s additional organ involvement (such as the kidneys, liver, or pancreas)
• Therapeutic interventions like speech, physical, or occupational therapy if strength, mobility, daily activities, or speech is impaired
• Management of hemihypertrophy with orthopedic surgery
• Screening for developmental issues

Prognosis

Infants with BWS are at increased risk for mortality mainly due to complications of prematurity, hypoglycemia, macroglossia, and malignant tumors.The good news is that many children with BWS grow up to have healthy adult lives and a normal lifespan. They can also have healthy children.

Over time, many of the physical characteristics will become less visible, though there may be some features that require surgical interventions to correct.

A Word From Verywell

Though the outlook for children with BWS is good, as a parent, it’s natural to feel overwhelmed from time to time. Thankfully, there are organizations, such as the Beckwith-Wiedemann Children’s Foundation International and the Beckwith Wiedemann Support Group (UK) to provide resources and advice to people navigating this medical condition.