Beckwith-Wiedemann syndrome

Overview

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder present at birth characterized by an increased risk of childhood cancer and certain features. Five common features used to define BWS are: macroglossia (large tongue), macrosomia (birth weight and length >90th percentile), midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth)

Symptoms

* Abdominal wall defect: umbilical hernia or omphalocele
* Creases in ear lobes
* Enlargement of some organs and tissues
* External ear (pinna) abnormalities and low-set ears
* Large newborn (LGA, large for gestational age)
* Large, prominent eyes
* Large tongue, sometimes protruding
* Lethargy
* Low blood sugar (hypoglycemia)
* Mild microcephaly

Causes

The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic. Eighty percent of cases are associated with a defect in chromosome number 11.

Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development, with Wilm’s tumor and adrenal carcinoma being most common.

Prevention

There is no known prevention for Beckwith-Wiedemann syndrome. Genetic counseling may be of value for families who would like to have additional children.

Diagnosis

Currently diagnosis of BWS is made by clinical evaluation and not by genetic testing. Diagnosis is generally based upon the child showing two out of the five major characteristics. These major characteristics are: macroglossia; unexplained hypoglycaemia in the first four months; ear creases or pits; abdominal wall defect (even a mild umbilical hernia); and macrosomia at birth.

Prognosis

In general, the prognosis is very good. Children with BWS usually do very well and grow up to become the heights expected based on their parents heights. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully.

Treatment

HYPOGLYCAMIA
Usually responds well to treatment with hydrocortisone, intravenous glucose and/or diet within 1 to 4 months
ABDOMINAL WALL DEFECTS
If an omphalocele is present, surgery will be required soon after birth and an umbilical hernia may also sometimes need correction. Constipation may require medication.