Prader-Willi syndrome

Common Name(s)

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a genetic condition that affects a person’s appetite, growth, metabolism, development, intellect and behavior. Signs and symptoms of PWS are present shortly after birth and can include low muscle tone (hypotonia), trouble feeding, and slow growth. Children and adults with PWS do not feel full and will always feel hungry, which leads to overeating. The excessive eating, along with a slow metabolism, typically causes a person with PWS to be overweight (obese). PWS also causes specific facial features, including a narrow forehead, almond shaped eyes, and a triangular mouth. Short stature, developmental delays, trouble sleeping, and stubborn behavior are also features of PWS. Most people with PWS cannot have children (are infertile) due to incomplete sexual development (puberty).

PWS occurs when a person does not have a full copy of chromosome 15 that came from their mother and a full copy that came from their father. The most common genetic cause is a missing (deleted) piece of chromosome 15. Some cases are a result of having two chromosome 15 copies that came from the mother and none that came from the father (uniparental disomy). Most cases occur randomly and are not inherited from a parent. PWS affects both males and females.

PWS is typically suspected in babies who have trouble gaining weight and have low muscle tone or in children, teenagers, and adults who eat too much and have learning problems. The diagnosis can only be confirmed through a genetic blood test. Early diagnosis will allow for early intervention and support. To help decrease the chance for obesity, constant monitoring of a child’s food intake is needed. Locking the cabinets and refrigerator is usually necessary. If your child has been diagnosed with PWS, talk to their doctor about the most current treatment options. Support groups can connect you with other families affected by PWS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Foundation for Prader-Willi Research

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

Last Updated: 5 Feb 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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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.

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.

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.

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: 5 Feb 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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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

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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 280 free, full-text research articles on human participants. First 3 results:

Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study.
 

Author(s): Jeffrey A Bennett, Sandra Hodgetts, Michelle L Mackenzie, Andrea M Haqq, Lonnie Zwaigenbaum

Journal:

 

Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies ...

Last Updated: 7 Mar 2017

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A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy.
 

Author(s): Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco

Journal: Arch Endocrinol Metab. ;60(6):596-600.

 

Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas ...

Last Updated: 16 Dec 2016

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Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.
 

Author(s): Yllka Kodra, Loreta A Kondili, Alessia Ferraroni, Maria Antonietta Serra, Flavia Caretto, Maria Antonietta Ricci, Domenica Taruscio

Journal: Ann. Ist. Super. Sanita. ;52(3):428-433.

 

Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by severe hypotonia during the neonatal period and the first two years of life, the onset of hyperphagia with a risk of obesity during infancy and adulthood, learning difficulties and behavioral or severe psychiatric ...

Last Updated: 4 Oct 2016

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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 13 free, full-text review articles on human participants. First 3 results:

[Prader-Willi syndrome in 2015].
 

Author(s): Maïthé Tauber, Denise Thuilleaux, Éric Bieth

Journal: Med Sci (Paris). 2015 Oct;31(10):853-60.

 

Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made in the first months of life, allowing a precise description of the natural history of the disease. Of interest, ...

Last Updated: 20 Oct 2015

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Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
 

Author(s): M A Angulo, M G Butler, M E Cataletto

Journal: J. Endocrinol. Invest.. 2015 Dec;38(12):1249-63.

 

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65-75 % of cases), maternal uniparental ...

Last Updated: 3 Nov 2015

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Prader-Willi syndrome and growth hormone deficiency.
 

Author(s): Zehra Aycan, Veysel Nijat Baş

Journal: J Clin Res Pediatr Endocrinol. 2014 ;6(2):62-7.

 

Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating ...

Last Updated: 17 Jun 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 2 May 2017

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Register of Patients With Prader-Willi Syndrome
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 12 Jul 2016

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Intranasal Oxytocin for Infants With Prader-Willi Syndrome
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 7 Aug 2017

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