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Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome


Metopic ridge
Metopic ridge


Beckwith-Wiedemann syndrome

Definition:

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



Causes, incidence, and risk factors:

The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic. Most 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. Wilm's tumor and adrenal carcinoma are the most common tumor's in patients with this syndrome.



Symptoms:

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:



Treatment:

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

Defects in the abdominal wall may need to be repaired. The child 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. Swelling of the tongue can cause problems with feeding and sleeping.



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.



References:

Cohen P, Shim M. Hyperpituitarism, tall stature, and overgrowth syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 561.




Review Date: 5/1/2011
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.

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