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Williams Syndrome

What is Williams Syndrome?

Williams syndrome is a rare disorder caused by a deletion of genes from the long arm of chromosome 7.


Williams syndrome is a rare disorder caused by a deletion of genes from the long arm of chromosome 7.
Acknowledgement of Williams Syndrome has not been added yet.
Synonyms for Williams Syndrome has not been added yet.
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 1 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.
Cardiac Issues: Supravalvular Aortic Stenosis, Renal Artery Stenosis, Pulmonary Stenosis and Long QT Hypertension Gastric Reflux Gastroparesis Hypercalcemia Chronic Ear Infections Hernias Low Muscle Tone Hyperacusis (Sensetive Hearing) Strabismus Poor Growth Hoarse Voice Early Puberty Delay in meeting developmental milestones Delays in speech, language and communication Delays in fine and gross motor skills Phobias Excessive worrying Mild to Severe Anxiety Individuals with Williams syndrome also have a characteristic facial appearance. The characteristic facial features include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. Individuals with Williams syndrome are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals also have a star-like pattern in the iris of their eyes.
Williams syndrome can be confirmed by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.
Diagnostic tests of Williams Syndrome has not been added yet
Williams syndrome cannot be cured and there is no standard course of treatment. Each medical and developmental issue should be addressed by a specialist. Physical, occupational and speech/language therapy is typically recommended. Cardiovascular monitoring should occur on an ongoing basis as well as an annual evaluation and monitoring of all body systems.
Prognosis varies with each individual and greatly depends upon the nature of medical and developmental issues.
Tips or Suggestions of Williams Syndrome has not been added yet.
References of Williams Syndrome has not been added yet.
The Boy Who Loved Too Much Created by RareShareElena
Last updated 6 Jun 2018, 12:16 AM

CAWS Family Conference Created by jdreid
Last updated 16 Nov 2008, 09:04 PM

Posted by jdreid
16 Nov 2008, 09:04 PM

CAWS Family Conference will be held July 30, 31, August 1, 2009 in Ottawa. Please see CAWS website for more information.

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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

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I am a mother of a child with Williams syndrome. I am also the President of the non-profit organization, Williams Syndrome Changing Lives Foundation.
I am the parent of a adult daughter with Williams Syndrome. I am very involved in the lives of individuals with developmental disabilties. I am currently Acting Chair for Williams Syndrome CAWS...

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The Boy Who Loved Too Much

Created by RareShareElena | Last updated 6 Jun 2018, 12:16 AM

CAWS Family Conference

Created by jdreid | Last updated 16 Nov 2008, 09:04 PM


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