What is Williams Syndrome?
February 24, 2013
Williams syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder and is present at birth. This region includes the elastin gene and affects approximately one in 10,000 births. It affects males and females equally. Williams syndrome is characterized by a wide range of medical problems with the most significant being cardiovascular disease. Medical problems can include hypercalcemia, which is many times present at birth, narrowed arteries causing high blood pressure, kidney problems, chronic ear infections, gastrointestinal issues, thickened organs, optical issues, hernias, rectal prolapse and urinary tract issues.
Individuals with Williams syndrome also have developmental delays ranging from mild to severe. Delays are typically global, and most children are quite delayed in meeting milestones such as crawling, walking, talking and many children have significant feeding difficulties. Williams syndrome 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. Mild to severe anxiety and Attention Deficit Disorder are also common features of Williams syndrome. No two individuals with Williams syndrome are alike, and the degree of severity in characteristics are variable from person to person. It is important to also remember that not all medical problems are present at birth and many occur over time and some may not be realized until adulthood. Williams syndrome can be confirmed by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.
The Williams Syndrome Changing Lives Foundation is a non-profit foundation centered on increasing Williams syndrome awareness, increasing education for families, the public, physicians and therapists. We can provide assistance to families for various medical and developmental needs. The foundation provides financial assistance with medical needs, including costs associated with travel to Williams syndrome specialty clinics throughout the United States, specialized medical equipment, therapy sessions, specialized educational needs, specialized camps (including music and summer camps), assistance for specialized in-home care and ABA (Applied Behavior Analysis) services. Costs associated with companion animals, nursing services, assistive technology devices, prescribed medications, specialized car seats, specialized formula and therapeutic feeding tools. Medical and developmental resources, such as costs associated with treatment from a Developmental Pediatrician and/or behavioral therapy are also provided.
For more information about Williams syndrome, visit www.wschanginglives.org.
Penny Perez is the CEO and Founder of Williams Syndrome Changing Lives Foundation. Penny also has a nine year old son, Keith, diagnosed with Williams syndrome and autism.
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