Beckwith-Wiedemann syndrome (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant-Editor-In-Chief: Kalsang Dolma, M.B.B.S.[2]

Overview

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

What are the symptoms of Beckwith-Wiedemann syndrome?

What are the causes of Beckwith-Wiedemann syndrome?

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

Diagnosis

  • 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

When to seek urgent medical care?

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

Treatment options

  • 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.

Where to find medical care for Beckwith-Wiedemann syndrome?

Directions to Hospitals Treating Beckwith-Wiedemann syndrome

Prevention of Beckwith-Wiedemann syndrome

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

What to expect (Outlook/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.

Possible complications

Sources

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