Definition

Beckwith-Wiedermann syndrome is an overgrowth syndrome, causing enlargement of organs during the fetal period.

Incidence

This condition occurs in approximately one in every fourteen thousand births.

Inheritance

There is no described pattern of inheritance for Beckwith-Wiedermann syndrome. There appear to be several genetic abnormalities that can be responsible for the syndrome, often lying on chromosome 11.

Risk to Further Children

There is no increased risk to further children described.

Symptoms and Signs

Children with Beckwith-Wiedermann syndrome are usually diagnosed at, or before birth. The overgrowth usually effects the tongue, liver, spleen, kidneys and pancreas. Children are usually large at birth.

Beckwith-Wiedermann syndrome may only affect one side of the body, causing one side to be bigger than the other.

The enlargement of the pancreas causes an increase in the amount of insulin in the body, and this commonly leads to babies having low blood sugar.

Children with this condition may be born with exomphthalmos, where the front of the abdomen does not form correctly, and the bowel may pass out of the abdomen. This may be seen on ultrasound before the baby is born.

Individuals with Beckwith-Wiedermann syndrome often have small heads; despite their body's larger than normal size. There is almost always a degree of abnormality in the brain.

Complications

Children born with Beckwith-Wiedermann syndrome are at increased risk of developing tumours of the kidney, liver, adrenal gland, and of muscle tissue.

Treatment

There is no specific treatment for this condition. Infants may require surgery to repair defects in the abdominal wall, and may require dextrose infusions to maintain their blood sugar.

Outcome

Generally the outcome for children born with Beckwith-Wiedermann syndrome is poor. The large number of problems around the time of birth, and the high risk of developing tumours later in early childhood mean that few children survive.