Williams Syndrome: Symptoms, Diagnosis & Support
By Sarah Jurgensmeyer, Joshua Baker, and Vera Shively, Lurie Children's Division of Genetics, Genomics and Metabolism
Although around 1 in 7,500 people worldwide have Williams syndrome, many people have not heard of the condition. Even though people with Williams syndrome and their families work year-round to raise awareness, the month of May is dedicated to increasing the understanding of Williams syndrome, fostering research interest for improved treatments, and further supporting patients and families.
What Causes Williams Syndrome?
Williams syndrome is a genetic condition caused by a missing segment of DNA (called a deletion) in one of our chromosomes. Our genes are made of DNA, which is packaged into chromosomes and has the instructions for making specific products our bodies need to grow and function. When some of the instructions are missing, as in a deletion, this can cause medical concerns. In Williams syndrome, the deletion occurs in a specific location on chromosome number 7, referred to as 7q11, and this loss of DNA instructions causes the symptoms associated with Williams syndrome. In most cases, the deletion occurs de novo, meaning it happens for the first time in the person with the condition.
What Are Signs and Symptoms of Williams Syndrome?
Signs and symptoms of Williams syndrome can occur throughout the body. While every patient is unique, some symptoms are more common for people with the condition. The heart and blood vessels (cardiovascular system) and digestive tract (gastrointestinal system) are some of the most frequently affected areas of the body. People with Williams syndrome also often have developmental delays and learning challenges throughout their lives. In addition, many people with Williams syndrome have an affinity for music, outgoing personalities, and strong verbal skills.
Some of the other common symptoms may include:
- High levels of calcium in the blood (hypercalcemia)
- Feeding difficulties
- Short height
- Low muscle tone
- Connective tissue concerns (joint problems, hernia)
- Anxiety and phobias
How Is Williams Syndrome Diagnosed?
Genetic testing is needed to confirm a suspected diagnosis of Williams syndrome. There are several genetic tests that may be used. In the past, the condition was typically diagnosed using a test called fluorescent in situ hybridization (FISH). Today, chromosome microarray is commonly used to diagnose the condition. A microarray can not only pinpoint the characteristic deletion on chromosome 7, but also establish the deletion’s size and which genes are involved in the deletion. Our hope is that someday we can better understand the impact of each of the genes included in the deletion to better guide care.
How Is Williams Syndrome Treated?
There is no cure for Williams syndrome, yet there are evidence-based healthcare guidelines published by the American Academy of Pediatrics. Treatment is lifelong and focuses on the management of symptoms. This is best achieved with a multidisciplinary healthcare team. Treatment plans and periodic medical screenings are based on the specific needs of each patient and should follow research-based recommendations.
New Williams Syndrome Specialty Clinic at Lurie Children’s
The new Lurie Children’s Williams Syndrome Clinic was launched with enthusiasm from patients, families, and our care team in January 2023. We are the only specialized Williams syndrome clinic in the Chicagoland area and are proud to partner with the Williams Syndrome Association, a patient and family advocacy organization. Our new program is dedicated to the care and support of patients with Williams syndrome and their families. We are eager to grow our program to best serve the local Williams syndrome patients and contribute to the national community!
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