Williams syndrome

Common Name(s)

Williams syndrome

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.  Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Williams syndrome" for support, advocacy or research.

Williams Syndrome Association

The Williams Syndrome Association is a non-profit organization that strives to enrich the lives of individuals and families affected by Williams syndrome and similar conditions through support, research and education. The Williams Syndrome Association (WSA) is the most comprehensive resource for people and families living with WS as well as doctors, researchers and educators. The WSA provides the resources and referrals that families need, and a strong and supportive community with which to connect throughout that child’s life.

Last Updated: 15 Nov 2014

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Williams Syndrome Changing Lives Foundation

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. The Williams Syndrome Changing Lives Foundation was formed to enhance the lives of children and adults with Williams syndrome by providing needed financial assistance with medical, therapeutic, recreational needs and other developmental resources. In addition, the Williams Syndrome Changing Lives Foundation provides support for individuals, parents and families through support and outreach.

Last Updated: 15 Nov 2014

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Williams Syndrome Family of Hope

Williams Syndrome Family of Hope, Inc. has been created to enhance the lives of individuals living with Williams syndrome. We are dedicated to raising public awareness about Williams syndrome and its effects on the individual and their family. Please join our efforts to provide hope, financial aid and relief for the constant, complex and ongoing medical and financial needs of families and individuals with Williams syndrome.

Last Updated: 15 Nov 2014

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 4 May 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

Last Updated: 31 Mar 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Williams syndrome" for support, advocacy or research.

Williams Syndrome Association

The Williams Syndrome Association is a non-profit organization that strives to enrich the lives of individuals and families affected by Williams syndrome and similar conditions through support, research and education. The Williams Syndrome Association (WSA) is the most comprehensive resource for people and families living with WS as well as doctors, researchers and educators. The WSA provides the resources and referrals that families need, and a strong and supportive community with which to connect throughout that child’s life.

http://www.williams-syndrome.org

Last Updated: 15 Nov 2014

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Williams Syndrome Changing Lives Foundation

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. The Williams Syndrome Changing Lives Foundation was formed to enhance the lives of children and adults with Williams syndrome by providing needed financial assistance with medical, therapeutic, recreational needs and other developmental resources. In addition, the Williams Syndrome Changing Lives Foundation provides support for individuals, parents and families through support and outreach.

http://www.wschanginglives.org

Last Updated: 15 Nov 2014

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Williams Syndrome Family of Hope

Williams Syndrome Family of Hope, Inc. has been created to enhance the lives of individuals living with Williams syndrome. We are dedicated to raising public awareness about Williams syndrome and its effects on the individual and their family. Please join our efforts to provide hope, financial aid and relief for the constant, complex and ongoing medical and financial needs of families and individuals with Williams syndrome.

http://www.wsfamilyofhope.org

Last Updated: 15 Nov 2014

View Details
Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 4 May 2015

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

http://www.thefocusfoundation.org/

Last Updated: 31 Mar 2015

View Details

 

General Support Organizations

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General Resources

 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Williams syndrome" returned 290 free, full-text research articles on human participants. First 3 results:

[Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].
 

Author(s): Yang Liu, Zhi-Yong Xu, Wei-Qing Wu, Fu-Wei Luo, Jian-Sheng Xie

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Dec;17(12):1267-72.

 

Williams-Beuren syndrome is a common chromosome microdeletion syndrome. Early diagnosis and treatment are very helpful for patients and their families. This study identified the chromosome karyotype in one fetus with ultrasonography abnormalities and three children with developmental ...

Last Updated: 23 Dec 2015

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Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.
 

Author(s): Shahryar Khattak, Elise Brimble, Wenbo Zhang, Kirill Zaslavsky, Emma Strong, P Joel Ross, Jason Hendry, Seema Mital, Michael W Salter, Lucy R Osborne, James Ellis

Journal:

 

Williams-Beuren Syndrome (WBS) is caused by the microdeletion of approximately 25 genes on chromosome 7q11.23, and is characterized by a spectrum of cognitive and behavioural features.

Last Updated: 25 Nov 2015

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High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome.
 

Author(s): Daiji Takeuchi, Michiko Furutani, Yuriko Harada, Yoshiyuki Furutani, Kei Inai, Toshio Nakanishi, Rumiko Matsuoka

Journal:

 

A high incidence of cardiovascular (CV) risk factors has been reported in adults with Williams-Beuren syndrome (WS). However, the prevalence of these factors in children and adolescents with WS is unknown. Therefore, the purpose of this study was to evaluate the prevalence of CV risk ...

Last Updated: 19 Sep 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Williams syndrome" returned 23 free, full-text review articles on human participants. First 3 results:

Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.
 

Author(s): Margarita G Todorova, Matthias C Grieshaber, Rafael J A Cámara, Peter Miny, Anja M Palmowski-Wolfe

Journal:

 

Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical ...

Last Updated: 4 Jun 2014

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Cardiovascular disease in Williams syndrome.
 

Author(s): R Thomas Collins

Journal: Circulation. 2013 May;127(21):2125-34.

 

Last Updated: 29 May 2013

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The social phenotype of Williams syndrome.
 

Author(s): Anna Järvinen, Julie R Korenberg, Ursula Bellugi

Journal: Curr. Opin. Neurobiol.. 2013 Jun;23(3):414-22.

 

Williams syndrome (WS) offers an exciting model for social neuroscience because its genetic basis is well-defined, and the unique phenotype reflects dimensions of prosocial behaviors. WS is associated with a strong drive to approach strangers, a gregarious personality, heightened ...

Last Updated: 3 Jun 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Defining the Brain Phenotype of Children With Williams Syndrome
 

Status: Recruiting

Condition Summary: Williams Syndrome

 

Last Updated: 11 May 2016

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Response Inhibition Training for Children With Williams Syndrome
 

Status: Recruiting

Condition Summary: Williams Syndrome

 

Last Updated: 26 May 2015

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Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
 

Status: Recruiting

Condition Summary: Williams Syndrome; Supravalvular Aortic Stenosis; Cardiovascular Disease

 

Last Updated: 14 Jun 2016

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