Beckwith-Wiedemann Syndrome

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Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder which manifests in many different ways, including hemihypertrophy (one side of the body is larger than the other). This leads to an asymmetric appearance.

The signs and symptoms of Beckwith-Wiedemann Syndrome vary among affected individuals. Many patients present some or all of the following symptoms:

  • Defects in the abdominal wall
  • Large abdominal organs
  • Large tongue
  • Skin creases near the ears
  • Low blood sugar
  • Kidney abnormalities
  • Limb length discrepancies

Beckwith-Wiedemann Syndrome affects 1 in 15,000 live births. The cause of Beckwith-Wiedemann Syndrome is due to a complicated genetic syndrome involving chromosome 11. Patients with Beckwith-Wiedemann Syndrome have a predisposition for Wilm’s tumor and must screen for it regularly.

These children or adults usually present complaining that one side of the body (arm and leg) appears longer than the other side. Many come with the diagnosis of hemi-hypertrophy but are diagnosed by us as having BWS instead. The chief complaint is regarding equalization of limb length discrepancy.

With both adults and children, an x-ray is taken at the initial visit to compare the leg lengths. The difference in lengths can be significant in an adult and quite small in a child but can also vary widely. With children, we do a prediction of the difference that will exist once the child reaches skeletal maturity, when the long bones have stopped growing; in girls this is within 2 years after beginning menstruation; in boys it is close to 15-16 years of age. Skeletal growth is predictable in a growing child. Skeletal growth is rapid within the first three years; in fact, if a discrepancy is present, a child will obtain half of their (predicted) limb length discrepancy at age three, and the remaining amount between age three and skeletal maturity. Treatment for BWS focuses on correcting the limb length discrepancy.

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