Health Encyclopedia

Beckwith-Wiedemann syndrome

Definition

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

Causes, incidence, and risk factors

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

Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development, with Wilm's tumor and adrenal carcinoma being most common.

Symptoms

Large newborn (LGA, large for gestational age)
Large tongue, sometimes protruding
Large, prominent eyes
Creases in ear lobes
External ear (pinna) abnormalities and low-set ears
Abdominal wall defect: umbilical hernia or omphalocele
Separated abdominal muscles (diastasis recti)
Undescended testicles (cryptorchidism)
Low blood sugar (hypoglycemia)
Poor feeding
Lethargy
Seizures
Enlargement of some organs and tissues

Signs and tests

The signs of Beckwith-Wiedemann syndrome include:

Low blood sugar (hypoglycemia)
Enlarged kidneys, liver, and spleen
Enlarged fontanelle (soft spot)
A ridge in the forehead caused by premature closure of the bones (metopic ridge)
Large size (90^th percentile)

Tests for Beckwith-Wiedemann syndrome include:

X-ray of the long bones
Blood tests for low sugar and other abnormalities
Ultrasound of the abdomen
X-ray of the abdomen
MRI or CT scan of the abdomen
Chromosomal studies for abnormalities in chromosome 11

Treatment

In infancy, hypoglycemia may be treated with intravenous solutions. Enlargement of the tongue can cause problems with feeding and sleeping.

Defects in the abdominal wall may need to be repaired. The children must be watched closely for the development of tumors.

Expectations (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.

Complications

Hypoglycemia
Seizures
Respiratory difficulties from obstruction due to large tongue
Feeding problems
Development of tumors

Calling your health care provider

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

Prevention

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

Review Date:6/13/2007
Reviewed By:A.D.A.M. Editorial Team: Greg Juhn, M.T.P.W., David R. Eltz, Kelli A. Stacy. Previously reviewed by Daniel Rauch, M.D., FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network (10/25/2006).

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