Sunday, February, 12, 2012

Beckwith-Wiedemann syndrome

Table of Contents

Symptoms
  • 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)

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:

  • 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: 05/01/2011
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)