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Prader-Willi Syndrome
Definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

Synonym(s): Labhart-Willi Syndrome / Royer Syndrome / Labhart-Willi-Prader-Fanconi Syndrome / Royer's Syndrome / Labhart Willi Prader Fanconi Syndrome / Labhart Willi Syndrome / Prader Willi Syndrome / Royers Syndrome / Syndrome, Labhart-Willi / Syndrome, Labhart-Willi-Prader-Fanconi / Syndrome, Prader-Willi / Syndrome, Royer / Syndrome, Royer's
See also:
Mental Retardation   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Prader-Willi syndrome?
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite and chronic overeating (hyperphagia). As a result, most experience rapid weight gain leading to obesity. People with Prader-Willi syndrome typically have mental retardation or learning disabilities and behavioral problems. Many people with this disorder also h ...

How common is Prader-Willi syndrome?
Prader-Willi syndrome affects an estimated 1 in 10,000 to 25,000 people.


More information from the Genetics Home Reference Website
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  Web resources for "Prader-Willi Syndrome"
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view the robot description of the site Prader-Willi syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the HON description of the site HONcode - Prader-Willi Syndrome: MedlinePluswww.nlm.nih.gov 2
view the HON description of the site HONcode - Prader-Willi syndrome - Genetics Home Referenceghr.nlm.nih.gov 2
view the robot description of the site BBC - Health: Prader-Willi syndrome www.bbc.co.uk  
view the HON description of the site HONcode - Prader-Willi syndromewww.kumc.edu  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org 2
view the HON description of the site HONcode - Orphanet: Prader Willi syndromewww.orpha.net 3
view the robot description of the site Prader-Willi Syndrome Association (PWSA) of Victoria, Australia Home Pagewww.pws.asn.au  
view the HON description of the site HONcode - Prader-Willi Syndromewww.fpnotebook.com  
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See also: - Mental Retardation

Broader term(s): - Mental Retardation - Neurobehavioral Manifestations - Neurologic Manifestations - Nervous System Diseases - Abnormalities, Multiple - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Chromosome Disorders - Obesity - Overnutrition - Nutrition Disorders - Nutritional and Metabolic Diseases
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Broader term(s): - Nervous System Diseases - Obesity - Nutrition Disorders
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See also: - Mental Retardation
Broader term(s): - Mental Retardation - Nervous System Diseases - Abnormalities
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  Scientific articles from MEDLINE for "Prader-Willi Syndrome"
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See also: - Mental Retardation
Broader term(s): - Mental Retardation - Neurobehavioral Manifestations - Neurologic Manifestations - Nervous System Diseases - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Chromosome Disorders - Obesity - Overnutrition - Nutrition Disorders
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Broader term(s): - Obesity

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Nutrition Disorders
                  Overnutrition
                      Obesity 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Chromosome Disorders 
              Abnormalities
                  Chromosome Disorders 
                  Abnormalities, Multiple 
      Diseases
          Nervous System Diseases
              Neurologic Manifestations
                  Neurobehavioral Manifestations
                      Mental Retardation 

MeSH 2010 © U.S. National Library of Medicine®.

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