Beckwith-Wiedemann Syndrome

What is Beckwith-Wiedemann Syndrome?

Beckwith-Wiedemann syndrome was first described by doctors Bruce Beckwith and Hans Rudolph Wiedemann in the 1960’s. The doctors identified children who had a number of symptoms including body overgrowth, external intestines, enlarged tongues, and low blood sugar. When a child exhibited all of these characteristics, they described them as having Beckwith-Wiedemann syndrome. Today, approximately 1 in 13,700 people have the condition. 

What are its clinical characteristics?

  • Macroglossia (large tongue)

  • Macrosomia (large body size) and/or hemihypertrophy (one side of body is bigger than the other side)
  • Neonatal hypoglycemia (low blood sugar as newborn babies)  
  • Increased risk for certain types of tumors such as Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor) 
  • Omphalocele (born with intestines on the outside of the body) or umbilical hernia
  • Creases or pits on the ears 
  • Normal intelligence

What causes Beckwith-Wiedemann?

Beckwith-Wiedemann is a result of abnormal activity in the genes that regulate the body’s cell growth. While there is no single cause for the change of these genes, a geneticist can determine the source with special testing and evaluation. Most individuals with Beckwith-Wiedemann are the first affected in the family and the risk for recurrence is low. However, there may be a hereditary connection depending on the underlying cause.  

What is the prognosis for my child with Beckwith-Wiedemann?

The prognosis for most children with this condition is generally positive, and treatment varies by child. It is important to monitor your child’s tumor development, but most children with Beckwith-Wiedemann will attend school, have friends, and enjoy life. With close follow-up by the craniofacial team and/or clinical geneticists at Nicklaus Children’s Hospital, your child can grow to become a healthy and happy adult.
 

Reviewed by: Chad Perlyn, MD

This page was last updated on: 6/21/2019 2:16:26 AM