Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms.

Etiology

Most cases are associated with a defect inchromosome number 11.

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

Symptoms

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:

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

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