Williams Syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder that is present at birth. The condition can affect anybody, and is known to occur equally in both females and males, and in every culture. WS causes numerous medical issues including cardiovascular disease, musculoskeletal problems, delays in development, and learning disabilities. These often occur side by side with highly social personalities, striking verbal skills, and a fondness for music.
Williams Syndrome: Extraordinary Gifts, Unique Challenges
May is Williams Syndrome Awareness Month
What Causes Williams Syndrome?
Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. The deletion occurs in either the egg or the sperm used to form the child with Williams syndrome. Accordingly, the deletion is present at the time of conception. It is likely that the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals. – Williams Syndrome Association
Signs and Symptoms of WS
Signs and symptoms of Williams Syndrome can vary, but generally include:
- a distinctive facial appearance;
- mild to moderate intellectual disability;
- a unique personality that combines over-friendliness and high levels of empathy with anxiety.
People with WS typically have difficulty with tasks such as drawing and assembling puzzles. They tend to do well on tasks that involve spoken language, music, and learning by repetition. They also often have very outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common. Learn more
Common Features of WS include:
- Characteristic facial appearance
- Heart and blood vessel problems
- Hypercalcemia (elevated blood calcium levels)
- Low birth-weight / slow weight gain
- Feeding difficulty (generally limited to the early years)
- Irritability (colic during infancy)
- Dental abnormalities
- Kidney abnormalities
- Hernias
- Hyperacusis (sensitive hearing)
- Musculoskeletal problems
- Overly friendly (excessively social) personality
- Developmental delay, learning challenges and attention deficit disorder
Treatment Options for Williams syndrome
There is currently no cure for Williams syndrome, and no known way to prevent it.
Treatment is usually based on the individual’s symptoms, and involves easing the symptoms connected to the condition. There is no standard protocol. Management may include:
- Feeding therapy for infants with feeding problems
- Early intervention programs and special education programs for children with varying degrees of developmental disabilities
- Behavioral counseling and/or medications for attention deficit disorder and/or anxiety
- Surgery for certain heart abnormalities
- Medications or diet modifications for hypercalcemia
- Orthodontic appliances or other treatments for malocclusion of teeth
- Gonadotropin-releasing hormone agonist for early puberty
- Learn more
Regular cardiovascular checkups are necessary to monitor and track any potential problems.
Narrowed blood vessels can be treated if they cause symptoms, physical therapy and speech therapy can also be beneficial.
Medical conditions can affect the lifespan of those with Williams syndrome.
Visit the sources below for more in-depth information.
Sources: healthline.com, williams-syndrome.org, rarediseases.info.nih.gov
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