Also known as: BWS
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 the clinical characteristics of BWS?
- 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 Wilm's 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
example of creases on ear
baby with enlarged tongue
What causes Beckwith-Wiedemann in children?
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: January 07, 2022 09:00 AM
Dr. Chad Perlyn is a pediatric plastic surgeon with the Division of Plastic Surgery at Nicklaus Children's Hospital. For more information, please visit nicklauschildrens.org/BWS