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

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 newborn (LGA, 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 (90^th 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

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

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

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:4/15/2008
Reviewed By:David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz. 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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