Williams Syndrome Program

Williams syndrome is a genetic condition that is caused by a missing segment of genetic material (DNA) in one of our chromosomes. Our genes are made of DNA, which is packaged into the chromosomes. Each gene has instructions for making a specific product our body needs to grow and function. Missing DNA is called a deletion. When some of the instructions are missing, as in a deletion, this can cause medical concerns. 

Williams syndrome impacts many different body systems, although the symptoms, medical concerns and their severity vary widely. The heart and blood vessels (cardiovascular system) and digestive tract (gastrointestinal system) are among the most affected systems in the body. In addition, children with Williams syndrome may have developmental delays and individuals often have a specific learning profile.  

 

Chromosomes come in pairs, and humans have 23 pairs. The deletion that causes Williams syndrome is found in a specific location on one member of the pair of chromosome number 7. In the cartoon on the left, the location of the deletion is marked by a red “X”.

In most cases, the genetic change that causes Williams syndrome occurs de novo, meaning it appears for the first time in the person affected by the condition.


Comprehensive Care

Williams syndrome impacts many different body systems. Management of symptoms involves multiple specialists, and the coordination of care can be difficult. The Williams Syndrome Program team at Lurie Children’s will help children and families coordinate appointments with different specialists, both within and outside of Lurie Children’s. This ensures that the proper care is received at the right time. Our team is dedicated to supporting and advocating for both the physical and emotional needs of children and their families. We are excited that our team also includes a music therapist, supported by funding from the Williams Syndrome Association.

Our Specialists

Mayte Gomez-Cruz, MT-BC

Music Therapist

What to Expect

The First Williams Syndrome Clinic Visit

Visits to the Williams Syndrome Clinic will be more involved than a typical visit to your pediatrician or primary care provider. In fact, the visit begins before you arrive. Our team reviews the child’s medical records, and a genetic counselor may call the child’s family, or caregiver, to discuss why the child was referred to us. The genetic counselor will ask questions about the child’s medical and family history and tell you what to expect at the first appointment.

At the appointment, you will meet our Williams syndrome team. Team members may include a genetic counselor, a geneticist (doctor), a music therapist, registered dieticians, and a cardiologist, all who have expertise in Williams syndrome. We will review the medical and family histories, including prenatal (before birth), birth and developmental. A child’s developmental history gives us information about their key growth milestones. The visit will also include a physical exam. Our team will explain what next steps are recommended such as medical imaging, laboratory and genetic testing. Much of this testing can be done at Lurie Children’s. We will also provide referrals to other specialists as needed.

Follow-up Visits

After the first visit, we will recommend regular follow-up with our team. This varies from every six months to annual visits. However, if any concerns arise between visits, our team is always available to help the children and families in our care.

Make an Appointment

To schedule a first-time or return appointment, please call the Division of Genetics directly at 312.227.6120

Questions?

For more information, please call our Clinic Coordinator, Sarah Jurgensmeyer at 312.227.4481.

Research

Our team works closely with researchers who study Williams syndrome. Thus, we are informed of cutting-edge treatment and technology that may benefit the children in our care. We are also a part of the Williams Syndrome Clinics & Nationwide Clinical Consortium, designated by the Williams Syndrome Association. We can connect interested children and families with opportunities to participate in research studies that can help us better understand Williams syndrome and possibly contribute to the discovery of future therapies.

Resources and Support

For additional information on Williams syndrome, please see:

Related Specialties

Conditions We Treat