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Beckwith-Wiedemann syndrome


Definition:

Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. It is a congenital condition, which means it is present at birth.

Causes:

The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic (passed down through families). Most cases are associated with a defect in chromosome number 11.

Infancy can be a critical period in babies with this condition because of the possibility of low blood sugar, a type of hernia called an omphalocele (when present), and an increased rate of tumor growth. Wilm's tumor and adrenal carcinoma are the most common tumors in people with this syndrome.

Symptoms:

Symptoms of Beckwith-Wiedemann syndrome are:

  • 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, prominent eyes
  • Large tongue, sometimes protruding
  • Lethargy
  • Low blood sugar
  • Smaller than normal head
  • Poor feeding
  • Separated abdominal muscles
  • Seizures
  • Undescended testicles
Exams and Tests:

The signs of Beckwith-Wiedemann syndrome include:

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

Tests for Beckwith-Wiedemann syndrome include:

Treatment:

Infants with low blood sugar may be treated with fluids given through a vein (intravenous, IV).

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

Outlook (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. Swelling of the tongue can cause problems with feeding and sleeping.

Possible Complications:

These complications can occur:

  • Development of tumors
  • Feeding problems
  • Low blood sugar
  • Breathing difficulties from blockage due to large tongue
  • Seizures
When to Contact a Medical Professional:

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

Prevention:

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

References:

Cohen P, Hosono H. Hyperpituitarism, tall stature, and overgrowth syndromes. In: Kliegman, RM, Behrman RE, St. Geme III JW, Schor NF, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 554.

Galerneau F. Beckwith-Wiedemann syndrome. In: Copel JA, D'Alton ME, Gratacós E, et al, eds. Obstetric Imaging. Philadelphia, PA: Elsevier Saunders; 2012:chap 111.


Review Date: 4/21/2015
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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