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Beckwith-Wiedemann syndrome

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:

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Beckwith-Wiedemann syndrome

Causes

Beckwith-Wiedemann syndrome is caused by a defect in the genes on chromosome 11. About 10% of cases can be passed down through families.

Symptoms

Signs and symptoms of Beckwith-Wiedemann syndrome include:

Exams and Tests

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:

Treatment

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.

Outlook (Prognosis)

Children with Beckwith-Wiedemann syndrome typically lead normal lives. Further study is needed to develop long-term follow-up information.

Possible Complications

These complications can occur:

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.

Related Information

Macroglossia
Visceromegaly
Macrosomia
Umbilical hernia
Omphalocele
Low blood sugar
Chromosome
Tumor
Wilms tumor
Cushing syndrome due to adrenal tumor
Abdominal thrusts

References

Devaskar SU, Garg M. Disorders of carbohydrate metabolism in the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 95.

Madan-Khetarpal S, Arnold G. Genetic disorders and dysmorphic conditions. In: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 1.

Sperling MA. Hypoglycemia. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 111.

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Review Date: 4/4/2019  

Reviewed By: Liora C. Adler, MD, Pediatric Emergency Medicine, Joe DiMaggio Children’s Hospital, Hollywood, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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