How do we diagnose Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is most often diagnosed through a physical exam. Other tests that might be used to diagnose Beckwith-Wiedemann syndrome include:

  • A complete review of your child’s medical or family history
  • Genetic testing before or after birth
  • Blood tests for low blood sugar
  • Ultrasound of the abdomen

How do we treat Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome has no cure, but some treatments can help ease its symptoms. The most common Beckwith-Wiedemann syndrome treatments include:

  • Medicine: Some infants require medicine for low blood sugar that persists past their first month.
  • Surgery: If a child has abnormal organs, defects in the abdominal wall, or an enlarged tongue that makes it difficult to breathe or eat, surgery may be needed.
  • Monitoring for a curved spine (scoliosis): If only one side of your child’s body is affected by overgrowth (hemihypertrophy), your doctor should watch for scoliosis.
  • Tumor screenings: Because BWS increases the risk of certain childhood cancers, it is important to have regular tumor screenings. These screenings will include yearly physical exams by a doctor who specializes in the syndrome, ultrasound exams of the kidneys and abdomen, and blood tests.

Because symptoms for BWS can vary widely, your doctor will prepare a treatment plan that best suits your child’s needs.

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