Beckwith-Wiedemann syndrome : Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

  • 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)

Diagnosis & 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


Review Date : 10/31/2009
Reviewed By : Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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