What is Williams Syndrome?
Williams Syndrome (WS) is a genetic disorder caused by a deletion of a small segment of the long arm of chromosome 7. This region includes the elastin gene. It occurs in approximately 1 in 8000 births. Williams Syndrome is characterized by mild to moderate mental retardation, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. Williams Syndrome can affect every system in the body. Medical problems may include cardiovascular disease caused by narrowed arteries, elevated blood pressure, kidney problems, gastrointestinal issues, limited joint mobility, chronic ear infections, thyroid issues and optical issues.
Attention Deficit Disorder is extremely common in Williams Syndrome and often requires medication. All individuals with Williams Syndrome have learning disabilities. WS is also associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction. The average IQ is in the mildly, mentally retarded range, however, some individuals have a more severe impairment and there are few who have normal intelligence.
How is Williams Syndrome Diagnosed?
Williams Syndrome can be detected by a blood test, fluorescent in situ hybridization [1] (FISH [2]) or targeted mutation analysis.
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Most Common Characteristics?
Many anomalies have been reported in people with Williams Syndrome, but, expression of the syndrome is highly variable from person to person. Also, some anomalies are readily apparent and may be recognized at birth while others are subtle and may go unnoticed until much later. Still, others are developmental and do not even exist until later on, such as learning disabilities. This explains why a diagnosis of WS is sometimes made during the first few days of life, and other times, not until much later. Also, there is great variability in the severity with which characteristics may appear and in the degree to which they cause difficulty.
- Cardiac abnormalities; Supravalvular aortic stenosis (SVAS), pulmonary stenosis
- Hypertension
- Kidney abnormalities
- Hernias
- Rectal Prolapse
- Chronic Ear Infections
- Hoarse Voice
- Hypotonia
- Hypercalcemia
- Feeding difficulties in infants
- GERD
- Strabismus
- Urinary tract abnormalities
- Poor Growth
- Early puberty
Characteristic facial appearance: Broad brow, bitemporal narrowness, periorbital fullness, a lacy iris pattern, strabismus, short nose, full nasal tip, malar hypoplasia, long philtrum, full lips, wide mouth, malocclusion, small jaw, and prominent earlobes are observed at all ages. Young children have epicanthal folds, full cheeks and small, widely spaced teeth, while adults typically have a long face and neck, accentuated by sloping shoulders, resulting in a more gaunt appearance.
- Delay in achieving developmental milestones
- Delay in speech and language development
- Dental problems (poor enamel, cavities)
- Anxiety
Who should I consult if I suspect?
You can ask your primary care provider to order the FISH test, but, the best way to proceed is to see a clinical geneticist. He or she can perform a complete evaluation, discuss the testing, and arrange for the FISH test to be conducted.
Treating or Treatments?
There is no “cure” for WS, but, there are ways to treat the various problems associated with the syndrome. There is no standard course of treatment for this very complex and uncommon disorder. People with WS require evaluation and subsequent monitoring by multiple specialists, including regular cardiovascular monitoring. Physical, Occupational and Speech/Language therapy is also recommended. Treatments are based on each individual symptom.
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What are the first steps to take?
The first step is to have a thorough cardiovascular evaluation. All systems in the body should be evaluated since no two individuals with Williams Syndrome are alike. One of the most commonly cited pieces of advice for parents of a newly diagnosed child is to find other parents who have been through the process. Visiting a developmental pediatrician can also be helpful in sorting through all the different therapy options.
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Please list info on your organization (including links)
The Williams Syndrome Family of Hope, Inc. is a grassroots, not for profit, organization that was formed by families for families. Our mission is to provide support, resources, education and financial resources to those affected by Williams Syndrome. Spreading awareness is the key. Educating physicians, therapists and educators is imperative.
We are “Differently Abled, Beautifully Perfect.” Hope is an Open Heart.
Website: https://hopefuldelights1.wixsite.com/wsfamilyofhope [6]
Find us on Facebook at https://www.facebook.com/Williams-Syndrome-Family-of-Hope-285994588089936/ [7]
For more information, you can email us at [email protected] [8]
Related: List and Explanation of Disabilities for Disability Awareness Month [9]