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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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

View Details
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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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 244 free, full-text research articles on human participants. First 3 results:

Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.
 

Author(s): Bernard J Crespi, Peter L Hurd

Journal:

 

Individuals with Williams syndrome, a neurogenetic condition caused by deletion of a set of genes at chromosomal location 7q11.23, exhibit a remarkable suite of traits including hypersociality with high, nonselective friendliness and low social anxiety, expressive language relatively ...

Last Updated: 1 Dec 2014

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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.
 

Author(s): David Guenat, Samuel Quentin, Carmelo Rizzari, Catarina Lundin, Tiziana Coliva, Patrick Edery, Helen Fryssira, Laurent Bermont, Christophe Ferrand, Jean Soulier, Christophe Borg, Pierre-Simon Rohrlich

Journal:

 

Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic ...

Last Updated: 12 Nov 2014

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Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
 

Author(s): Fumiko Hoeft, Li Dai, Brian W Haas, Kristen Sheau, Masaru Mimura, Debra Mills, Albert Galaburda, Ursula Bellugi, Julie R Korenberg, Allan L Reiss

Journal:

 

In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable ...

Last Updated: 9 Aug 2014

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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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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: 17 Jan 2015

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Fat Distribution and Glucose Metabolism in Williams Syndrome
 

Status: Recruiting

Condition Summary: Williams Syndrome

 

Last Updated: 8 Oct 2014

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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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