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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:

  • Low blood sugar
  • A type of hernia called an omphalocele (when present)
  • An enlarged tongue (macroglossia)
  • An increased rate of tumor growth. Wilms tumors and hepatoblastomas are the most common tumors in children with this 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:

  • Large size for a newborn
  • Red birth mark on forehead or eyelids (nevus flammeus)
  • Creases in ear lobes
  • Large tongue (macroglossia)
  • Low blood sugar
  • Abdominal wall defect (umbilical hernia or omphalocele)
  • Enlargement of some organs
  • Overgrowth of one side of the body (hemihyperplasia/hemihypertrophy)
  • Tumor growth, such as Wilms tumors and hepatoblastomas

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:

  • Blood tests for low blood sugar
  • Chromosomal studies for abnormalities in chromosome 11
  • Ultrasound of the abdomen

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:

  • Development of tumors
  • Feeding problems due to enlarged tongue
  • Breathing problems due to enlarged tongue
  • Scoliosis due to hemihypertrophy

When to Contact a Medical Professional

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

For more information on testing, diagnostic, surgical and treatment services available at Huron Regional Medical Center, click here. The medical staff at HRMC includes full-time primary and specialty physicians to care for your whole family, as well as visiting specialists who see patients in HRMC'S Specialty Clinic, HRMC Physicians Clinic and other local clinics. Learn more by visiting our online Find-a-Doc directory.

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

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.

  • Beckwith-Wiedemann syndrome

    Beckwith-Wiedemann syndrome - illustration

    Beckwith-Wiedemann syndrome is an inherited growth disorder. Babies with this syndrome may have a range of symptoms. These symptoms may include large tongue (macroglossia), large organs (visceromegaly), large body size (macrosomia), abdominal wall defects (umbilical hernia or omphalocele), and overgrowth on one side of the body (hemihyperplasia/hemihypertrophy).

    Beckwith-Wiedemann syndrome

    illustration

    • Beckwith-Wiedemann syndrome

      Beckwith-Wiedemann syndrome - illustration

      Beckwith-Wiedemann syndrome is an inherited growth disorder. Babies with this syndrome may have a range of symptoms. These symptoms may include large tongue (macroglossia), large organs (visceromegaly), large body size (macrosomia), abdominal wall defects (umbilical hernia or omphalocele), and overgrowth on one side of the body (hemihyperplasia/hemihypertrophy).

      Beckwith-Wiedemann syndrome

      illustration


     

    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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