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 size for a newborn (large for gestational age)
• Large, prominent eyes
• Large tongue, sometimes protruding
• Lethargy
• Low blood sugar (hypoglycemia)
• Mild microcephaly
• Poor feeding
• Separated abdominal muscles (diastasis recti)
• Seizures
• Undescended testicles (cryptorchidism)

Signs and tests:

The signs of Beckwith-Wiedemann syndrome include:

• A ridge in the forehead caused by premature closure of the bones (metopic ridge)
• Enlarged fontanelle (soft spot)
• Enlarged kidneys, liver, and spleen
• Large size (90th percentile)
• Low blood sugar (hypoglycemia)

Tests for Beckwith-Wiedemann syndrome include:

• Blood tests for low sugar and other abnormalities
• Chromosomal studies for abnormalities in chromosome 11
• MRI or CT scan of the abdomen
• Ultrasound of the abdomen
• X-ray of the abdomen
• X-ray of the long bones

Treatment:

Infants with low blood sugar may be treated fluids given through a vein ( intravenous solutions).

Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors.

Expectations (prognosis):

Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available. Mental development appears to be normal to very slightly decreased. Swelling of the tongue can cause problems with feeding and sleeping.

Complications:

• Development of tumors
• Feeding problems
• Hypoglycemia
• Respiratory difficulties from obstruction due to large tongue
• Seizures

Calling your health care provider:

If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.

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.