Condition

Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a condition that affects your baby’s growth. Your baby may be larger than average at birth, but the height and weight of children with BWS is usually in the average range when they grow up.

What are common symptoms of Beckwith-Wiedemann Syndrome?

Macrosomia: large body
Macroglossia: large tongue
Enlarged kidneys and/or adrenal glands
Hemihyperplasia: one side of your child’s body or one part of the body is bigger or longer than the other
Neonatal hypoglycemia: low blood sugar at birth
Omphalocele: an abnormality of the skin and muscles covering the abdomen
Umbilical hernia: a protrusion of tissue through the belly button area
Embryonal tumors: tumors that tend to occur early in life
Renal (kidney) abnormalities such as nephrocalcinosis or sponge kidney
Ear creases or pits
Glabellar nevus flammeus: a reddish birthmark on the forehead

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Every child with Beckwith-Wiedemann is different. We are prepared to meet you where you are, provide information and support, as well as the most advanced diagnosis and treatment for any BWS symptoms affecting your child. Meet the doctors and surgeons who treat Beckwith-Wiedemann Syndrome and schedule an appointment today.

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Frequently Asked Questions

What tumors can occur with Beckwith-Wiedemann Syndrome?

BWS can cause certain cancerous tumors including:

Adrenal adenoma or cortical carcinoma: tumors of the adrenal glands
Hepatoblastoma: a form of liver cancer
Neuroblastoma: a cancer that grows in the nerve tissue
Rhabdomyosarcoma: a cancer that grows in the muscles
Wilms tumor: a cancer of the kidney

Other less frequent growths include pituitary adenoma, a benign (noncancerous) tumor of the pituitary gland in the brain.

What causes Beckwith-Wiedemann syndrome?

Each person has 23 pairs of chromosomes. We inherit half from our mother and half from our father. Along the lengths of our chromosomes are our genes, which are code for proteins that have roles in the body and allow us to function day to day.

Chemical switches turn the genes on and off. There are some regions of our genetic makeup where only genes on the maternally inherited chromosomes are turned on or off. In other regions of our genetic makeup, only genes on the paternally inherited chromosomes are turned on or off. This allows for only the maternal or paternal genes to be expressed.

The regions of our genetic makeup where this occurs are called ‘imprinted’ regions. Among imprinted regions, the maternal and paternal genes cannot both be turned on or turned off at the same time. When this happens, problems can occur such as the development of BWS.

There is a region on the 11th chromosome pair that is referred to as 11p15.5. In this area, there are two important regions: imprinting center I (IC1) and imprinting center 2 (IC2). When there is a problem with either or both of these regions, BWS can arise. Another way that BWS can develop is when there is a “spelling error” in a gene on the 11th chromosome known as CDKN1C.

Some people who have BWS are “mosaic” (moh-ZAY-ic): they only have a portion of the cells of their bodies affected — not all.

Will my child’s children get Beckwith-Wiedemann syndrome?

The children of most people with BWS are unaffected by the condition. This is because imprinting is “reset” with each pregnancy. Unless the person with BWS has a chromosomal abnormality (a broken or rearranged chromosome or an extra or missing piece of chromosome 11), BWS is usually not inherited. If a person with BWS has a chromosome 11 rearrangement, there is the small possibility that they could have a child with BWS.

Also, if a person has BWS due to a change in the CDKN1C gene, there is a 50% chance for their child to inherit the altered copy of the gene and to be affected, and a 50% chance to inherit the normal copy and to be unaffected. This is because we each have two copies of CDKN1C gene — one copy from our mom and one copy from our dad.

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