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Beckwith-Wiedemann Syndrome

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What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a growth regulation disorder. The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits. Children with BWS may also have hemihyperplasia, in which some parts of the body are larger on one side than on the other.


The major features of BWS, macrosomia and macroglossia, are often present at birth. Abdominal wall defects such as omphalocele, which causes the inside of the abdomen to protrude through the navel, are also present at birth and may require surgery before an infant leaves the hospital. Mothers of children with BWS may have pregnancy complications, including premature delivery and polyhydramnios (excess amniotic fluid). An unusually large placenta and long umbilical cord may also be present.

The increased growth rate generally slows during childhood. Intellectual development is usually normal, and adults with BWS typically do not experience any medical problems related to their condition. 

What causes BWS?

BWS is a genetic condition related to changes in the genes (in an area called the short arm) of chromosome 11 (11p15.5). This is the area of the chromosome where two genes are located: insulin-like growth factor II (IGF-2) and cyclin-dependent kinase inhibitor (CDKN1C). In most cases (about 85%), the genetic changes that cause BWS happen sporadically (occurs by chance) in families where there is no history of the condition. In about 10% to 15 % of cases, the genetic changes may be inherited. This means that the risk for BWS can be passed from generation to generation in a family. The genetic mechanisms that cause gene mutations (alterations) resulting in BWS are complex.

How is BWS inherited?

The 10% to 15% of BWS that is inherited follows an autosomal dominant inheritance pattern. Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. In autosomal dominant inheritance, a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. 

How common is BWS?

BWS has been found across different population groups. Approximately one in 13,700 people have BWS. Some researchers believe this number could be an underestimate.

How is BWS diagnosed?

The diagnosis of BWS is clinical, meaning that it is based primarily on physical features. BWS is suspected in children who are larger than expected for their age, especially if growth is not symmetrical (the same on both sides). An enlarged tongue and abdominal wall defect, primarily omphalocele, are also considered to be common features. There are many other features that may be seen in some children with BWS. However, not every child with BWS will have every feature. Features are listed as major (common) or minor (less common). It is generally agreed that at least one major feature and two minor features are required for a diagnosis of BWS:

Major Features

Macrosomia (large body size)

Macroglossia (large tongue)

Omphalocele (abdomen protrudes through navel)

Hemihyperplasia (some parts of the body are larger on one side)

Ear lobe creases or pits

Visceromegaly (enlargement of one or more abdominal organ)

Embryonal tumor (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma)

Adrenocortical tumor (adrenal gland tumor)

Kidney abnormalities

Cleft palate (gap in the roof of the mouth)

Family history of BWS

Minor Features

Polyhydramnios (excessive amniotic fluid)

Prematurity (low birth weight)

Hypoglycemia (low blood sugar)

Advanced bone age

Heart problems

Diastatsis recti (separation of the right and left sides of the main abdominal muscle)

Hemangioma (noncancerous tumor made up of blood vessels)

Facial nevus flammeus (hemangioma of the skin, also called a “port-wine stain”)

Characteristic facial features

Identical twins

Genetic testing for gene mutations associated with BWS is available, but it is complex. It is recommended that all families considering genetic testing for BWS meet with a clinical geneticist (a medical doctor who has training in genetics) and genetic counselor that can explain the tests and coordinate testing. The genetic testing methods that are currently available may be able to identify up to 80% of genetic mutations causing BWS.

What are the estimated cancer risks associated with BWS?

The estimated risk for a tumor in a child with BWS is about 7.5%.  Tumors are very rare after age 10, and the risk for an individual tumor decreases over time until the risk is similar to that of the general population. The cancer risk is highest in children with BWS who have hemihyperplasia and organomegaly (enlargement of organs), especially nephromegaly (enlargement of the kidneys) than in children with isolated hemihypertrophy. Several different tumor types, both cancerous and benign (noncancerous), have been reported in children with BWS. The most common tumor types are:

Wilms tumor (kidney tumor; about 40% of cases)

Hepatoblastoma (liver tumor)

Adrenocortical carcinoma (about 20% of cases)



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