Beckwith-Weidemann Syndrome

Beckwith-Wiedemann Syndrome Causes

The syndrome is caused by a genetic mutation of chromosome 11 (11p15).

In many cases, a child with the syndrome will have a normal chromosome 11 in the cells of some parts of the body and a mutated chromosome 11 in other parts. This accounts for the range of symptoms experienced by children with the syndrome.

Between 10 and 15 percent of cases of Beckwith-Wiedemann syndrome are inherited from a parent, but most cases are new genetic abnormalities.

Beckwith-Wiedemann Syndrome Symptoms

Symptoms can include:

• A large birth weight.
• One side of the body growing at a faster rate than the other.
• An enlarged tongue.
• Creases or pits in the earlobe.
• A cleft palate or submucous cleft palate.
• Port-wine stain on the face.
• Low blood sugar as a newborn and later.
• An umbilical hernia (intestines protruding from the abdominal wall).
• Enlarged abdominal organs, such as the kidneys, liver, or pancreas.
• A higher chance of developing tumors and childhood cancers.

Beckwith-Wiedemann Syndrome Diagnosis

A doctor can often diagnose this syndrome at birth if several symptoms are present. Sometimes a physical exam is enough to make the diagnosis.

Further diagnostic tests include:

• Blood tests for low blood sugar.
• An ultrasound of the abdomen to check organ sizes.
• Chromosomal studies to check for genetic abnormalities.
• A cancer screening.

It's important to be diagnosed early since children born with the condition are more likely to develop tumors that could be cancerous. About 10 percent of people with Beckwith-Wiedemann syndrome develop tumors, typically in childhood.

The most common are:

• Wilms tumor, a kidney cancer.
• Hepatoblastoma, a liver cancer.

Cancers less commonly associated with Beckwith-Wiedemann syndrome include:

• Neuroblastoma
• Rhabdomyosarcoma
• Adrenocortical tumors

Beckwith-Wiedemann Syndrome Treatment

Treatment depends on which symptoms your child has. Beckwith-Wiedemann syndrome treatment options may include:

• IV fluids to correct low blood sugar.
• Surgery of the abdominal wall, if organs are protruding.
• Ongoing screening and possible treatment for curvature of the spine (scoliosis) if the body is growing asymmetrically.
• Surgery to fix an enlarged tongue which, if left untreated, can cause feeding or breathing issues.

Ongoing screening for tumors, including blood tests and abdominal ultrasounds. This is especially important because the tumors associated with Beckwith-Wiedemann syndrome are curable if caught at an early stage.