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. The signs and symptoms of the disorder vary somewhat from child to child.
Infancy can be a critical period in babies with this condition because of the possibility of:
Beckwith-Wiedemann syndrome is caused by a defect in the genes on chromosome 11. About 10% of cases can be passed down through families.
Signs and symptoms of Beckwith-Wiedemann syndrome include:
The health care provider will do a physical exam to look for signs and symptoms of Beckwith-Wiedemann syndrome. Often this is enough to make a diagnosis.
Tests for the disorder include:
Infants with low blood sugar may be treated with fluids given through a vein (intravenous, IV). Some infants may need medicine or other management if low blood sugar continues.
Defects in the abdominal wall may need to be repaired. If the enlarged tongue makes it hard to breathe or eat, surgery may be needed. Children with overgrowth on one side of the body should be watched for a curved spine (scoliosis). The child also must be watched closely for the development of tumors. Tumor screening includes blood tests and abdominal ultrasounds.
Children with Beckwith-Wiedemann syndrome typically lead normal lives. Further study is needed to develop long-term follow-up information.
These complications can occur:
If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician right away.
There is no known prevention for Beckwith-Wiedemann syndrome. Genetic counseling may be of value for families who would like to have more children.
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Sperling MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 92.