Prader-Willi syndrome

Common Name(s)

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a complex genetic condition that affects many parts of the body.  At birth, babies with PWS have poor muscle tone and a weak cry. Initially, they are slow feeders and appear undernourished. The feeding problems improve after infancy and often between 2 to 4 years of age, children with PWS become very focused on food and have difficulty controlling their appetite. The overeating often results in rapid weight gain and obesity. Individuals with PWS also often have developmental delays and less-than-average adult height. PSW is caused by missing or non-working genes on chromosome 15. Most cases are not inherited, but occur randomly.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Prader-Willi syndrome" for support, advocacy or research.

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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Foundation for Prader-Willi Research

The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome (PWS) through the advancement of research.

http://www.fpwr.org

Last Updated: 4 Mar 2013

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Prader-Willi Syndrome Association (USA)

Prader-Willi Syndrome Association (USA) is an organization of families and professionals working together to raise awareness, offer support, provide education and advocacy, and promote and fund research to enhance the quality of life of those affected by Prader-Willi syndrome.

http://www.pwsausa.org

Last Updated: 13 Dec 2012

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Prader-Willi Syndrome Association-Kansas

The Kansas Chapter of the Prader-Willi Syndrome Association USA is committed to assist each family in locating services, education, advocacy and literature. The Prader-Willi Syndrome Association - Kansas Chapter we’ll give you the attention and personal devotion you require every step of the way to assist in maintaining well being for your child with PWS. Prader-Willi Syndrome Association - Kansas is located in Wichita with a devoted team of parents also with children impacted by PWS. Let us put our experience to work helping you and your child.

http://www.pwsa-kansas.org

Last Updated: 27 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Prader-Willi syndrome" for support, advocacy or research.

Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
Foundation for Prader-Willi Research

The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome (PWS) through the advancement of research.

http://www.fpwr.org

Last Updated: 4 Mar 2013

View Details
Prader-Willi Syndrome Association (USA)

Prader-Willi Syndrome Association (USA) is an organization of families and professionals working together to raise awareness, offer support, provide education and advocacy, and promote and fund research to enhance the quality of life of those affected by Prader-Willi syndrome.

http://www.pwsausa.org

Last Updated: 13 Dec 2012

View Details
Prader-Willi Syndrome Association-Kansas

The Kansas Chapter of the Prader-Willi Syndrome Association USA is committed to assist each family in locating services, education, advocacy and literature. The Prader-Willi Syndrome Association - Kansas Chapter we’ll give you the attention and personal devotion you require every step of the way to assist in maintaining well being for your child with PWS. Prader-Willi Syndrome Association - Kansas is located in Wichita with a devoted team of parents also with children impacted by PWS. Let us put our experience to work helping you and your child.

http://www.pwsa-kansas.org

Last Updated: 27 Apr 2013

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 "Prader-Willi syndrome" returned 211 free, full-text research articles on human participants. First 3 results:

Manic phenomena in an adult with Prader-Willi syndrome.
 

Author(s): Varda Gross-Tsur, Harry Hirsch, Fortu Benarroch

Journal: Isr. Med. Assoc. J.. 2014 Jan;16(1):66.

 

Last Updated: 28 Feb 2014

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Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.
 

Author(s): Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino

Journal:

 

Deletion of the subtelomeric region of 1p36 is one of the most common subtelomeric deletion syndromes. In monosomy 1p36, the presence of obesity is poorly defined, and glucose metabolism deficiency is rarely reported. However, the presence of a typical Prader-Willi-like phenotype ...

Last Updated: 7 Feb 2014

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Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences.
 

Author(s): Anne Rieusset, Fabienne Schaller, Unga Unmehopa, Valery Matarazzo, Françoise Watrin, Matthias Linke, Beatrice Georges, Jocelyn Bischof, Femke Dijkstra, Monique Bloemsma, Severine Corby, François J Michel, Rachel Wevrick, Ulrich Zechner, Dick Swaab, Keith Dudley, Laurent Bezin, Françoise Muscatelli

Journal: PLoS Genet.. 2013 ;9(9):e1003752.

 

Genomic imprinting is a process that causes genes to be expressed from one allele only according to parental origin, the other allele being silent. Diseases can arise when the normally active alleles are not expressed. In this context, low level of expression of the normally silent ...

Last Updated: 16 Sep 2013

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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 "Prader-Willi syndrome" returned 9 free, full-text review articles on human participants. First 3 results:

GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.
 

Author(s): Cheri L Deal, Michèle Tony, Charlotte Höybye, David B Allen, Maïthé Tauber, Jens Sandahl Christiansen,

Journal: J. Clin. Endocrinol. Metab.. 2013 Jun;98(6):E1072-87.

 

Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups since its approval in the United States in 2000 and in Europe in 2001. Its use in PWS represents a unique therapeutic challenge that includes ...

Last Updated: 3 Jun 2013

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[Growth hormone usage in Prader-Willi syndrome].
 

Author(s): Durval Damiani

Journal: Arq Bras Endocrinol Metabol. 2008 Jul;52(5):833-8.

 

Prader-Willi syndrome (PWS), with a prevalence of 60:1.000.000, results from the loss of paternal chromosome 15, being 56% due to deletion, 24% due to uniparental maternal disomy, and 18% from methylation, an epigenetic phenomenon. The clinical picture begins with extreme muscular ...

Last Updated: 17 Sep 2008

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[Therapeutical approach of obesity in Prader-Willi Syndrome].
 

Author(s): Daniel F de Carvalho, Cíntia Cercato, Madson Q Almeida, Marcio C Mancini, Alfredo Halpern

Journal: Arq Bras Endocrinol Metabol. 2007 Aug;51(6):913-9.

 

Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypotonia, mental retardation, characteristic facial appearance, hyperphagia, and compulsive eating due to hypothalamic dysfunction. PWS is caused by loss of function of genes located in chromosome 15q11-q13, ...

Last Updated: 15 Oct 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome
 

Status: Not yet recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 16 Apr 2014

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Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome; Growth Hormone Deficiency

 

Last Updated: 30 Apr 2013

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Growth Hormone Use in Adults With Prader-Willi Syndrome
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 7 Mar 2007

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