By Kristen Burr, Director of the Beckwith-Wiedemann Children’s Foundation International and the BWS Coordinator for Nicklaus Children’s Hospital

If you have a child or adult family member with Beckwith-Wiedemann Syndrome, or BWS, then you know just how challenging it can be. This genetic disorder begins showing symptoms at birth and can lead to complications as your child grows.
 
Some of the first signs of BWS can appear on ultrasound, at birth or early in the child’s life. Those symptoms include:

• Enlarged tongue. Children are often born with a tongue that appears too big for their mouth, also known as macroglossia.

• Above average birth weight. Children with BWS are often born larger than average, though not all large newborns have BWS.

• Ear issues. Small creases on the earlobes or indentations on the outer ear may be present.

• Birthmarks. Children may have pink or red birthmarks on their faces, although not every child with these marks has BWS.

Complications

 As children with BWS grow, they can develop new symptoms or complications, including excessive or uneven growth, low blood sugar, hernias, kidney issues, enlarged liver or weakened stomach. Children with BWS also have an elevated risk of developing early cancers. According to the Cleveland Clinic, approximately 7.5% of kids with BWS may develop cancer between birth and age 8.

A Rare Disease

Another challenge for families of those with BWS is the fact that the disease is rare and, as a result, not well-known. About 300 children per year are born with BWS, and the National Organization for Rare Disorders puts the total incidence rate at one in every 10,340 live births. In rare cases, BWS can be passed along through families, but that’s true in only 5 to 10 percent of cases. Most of the time, it occurs randomly due to changes in a specific region of chromosome 11.
 
For families coping with the condition, what that means is that support can sometimes be difficult to find. Plus, a comprehensive care team composed of a broad range of specialists is often required to support and care for children with BWS. This may include specialists ranging from cardiologists to dentists to surgeons to oncologists to speech therapists and many others.
 
In addition to the medical aspects of BWS, there’s also the emotional component that many families face. Connecting with others who truly understand what you’re going through can be incredibly comforting. But because BWS is so rare, finding that kind of support isn’t always easy. The Beckwith-Wiedemann Children’s Foundation International offers a Facebook group where families can share information, ask questions, and feel less alone. Many parents find that connecting one-on-one with others navigating the same challenges can be especially helpful. 

Help at Nicklaus Children’s

To provide patients with BWS and their families with medical and emotional support, Nicklaus Children’s Hospital began hosting the Beckwith Wiedemann Syndrome (BWS) Patient & Family Conference every two years starting in 2016. The next conference will be in the summer of 2026. At Nicklaus Children’s, we recognized the challenges that these families face both medically and emotionally. The conference was designed to empower families facing a BWS diagnosis with much-needed care and support.

About the Conference

The conference takes place over two days every other summer on campus at Nicklaus Children’s Hospital. The first day patients can be assessed and treated by the hospital’s multi-disciplinary team of BWS specialists, one of the best in the country. Among the many distinguished specialists on hand to assess and treat patients is Chad Perlyn, M.D., one of the leading craniofacial surgeons worldwide in tongue reduction surgery.
 
The following day provides families with an opportunity to hear physicians and other experts speak on topics to help them understand BWS and how to care for their loved ones.
 
Of course, another great benefit of the conference is the opportunity to meet and get to know other families with BWS and have a chance to share stories and support one another. Many lifelong bonds among families have been formed through the conference.
 
For more information or to register for the 2026 Beckwith Wiedemann Syndrome (BWS) Patient & Family Conference, visit their website or call 305-278-5923.