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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 (
), omphalocele (when present), and an increased rate of development. and are the most common tumors in patients with this syndrome.
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:
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.
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.
- Development of tumors
- Feeding problems
- Respiratory difficulties from obstruction due to large tongue
Calling your health care provider
If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.
There is no known prevention for Beckwith-Wiedemann syndrome. Genetic counseling may be of value for families who would like to have additional children.
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: Saunders Elsevier; 2011:chap 554.
- Last reviewed on 5/10/2013
- Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, Bethanne Black, Stephanie Slon, and Nissi Wang.
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