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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 breath 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.

 

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

Jones KL, Jones M, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Elsevier Saunders; Philadelphia, PA; 2015:218-22.

Stevenson RE, Hall JG, Everman DB, Soloman BS, eds. Human Malformations and Related Anomalies. 3rd Edition. Oxford University Press. New York, NY, 2015:888-91.

 
  • 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

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Beckwith-Wiedemann syndrome

           

             

            Review Date: 3/17/2016

            Reviewed By: Jennifer M. Kalish, MD, PhD, Attending Physician, Division of Human Genetics, The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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