An Overview of 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 spectrum of signs and symptoms an individual may have, and the severity of the syndrome 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.

BWS was first noted in medical literature in the 1960s by Dr. J. Bruce Beckwith and Dr. 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, and patients can display a variety of physical qualities as well.

Approximately one in every 13,700 newborns around the world is diagnosed with BWS, according to Genetics Home References, a branch of the U.S. National Library of Medicine. But the statistics calculating the prevalence of BWS may not be wholly accurate. People who have minor cases of the condition may never be diagnosed. Additionally, BWS impacts both males and females to the same degree.

Symptoms

BWS is associated with a region on chromosomes known as 11p. Overgrowth and other physical features may develop when genetic variations occur in that area. Because there is a range of symptoms that can develop, it’s referred to as 11p overgrowth spectrum. 

Children with BWS may be larger than other children their age, but growth tends to abate around the age of 8, and adults with BWS are likely to be of average height, according to the Genetic and Rare Diseases Information Center (GARD).

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. Symptoms include:

• Abnormally increased birth height and weight
• Overgrowth on one side of the body, known as hemihyperplasia 
• Overgrowth of one part of the body
• Enlarged tongue
• Hypoglycemia or low blood sugar
• Hyperinsulinism or too much insulin
• 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

Causes

BWS is caused by defects in the genes on chromosome 11. However, the methods by which the defect occurs are complicated. Some ideas as to the causes include abnormalities in gene expression, changes in the methylation cycle, an imbalance of active genes on chromosome 11, genetic mutations, and more. Approximately 10 percent 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 the 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 with an ultrasound 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, a normal lifespan, and they can 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.