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
-
Beckwith-Wiedemann syndrome : Overview, Causes, & Risk Factors
-
Beckwith-Wiedemann syndrome : Symptoms & Signs, Diagnosis & Tests
-
Beckwith-Wiedemann syndrome : Treatment
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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.