Prader-Willi syndrome

Introduction: Prader-Willi syndrome

Description of Prader-Willi syndrome

Prader-Willi syndrome (medical condition): Prader-Willi syndrome and Angelman syndrome are two rare chromosome disorders, with very different symptoms, but caused by the same area of DNA. They are important to genetic research because they are caused by ...more

Prader-Willi syndrome: See also Prader-Willi syndrome:
  »Introduction: Prader-Willi syndrome
  »Symptoms of Prader-Willi syndrome

Prader-Willi syndrome: [MIM*176270] a congenital syndrome characterized by short stature, mental retardation, polyphagia with marked obesity, and sexual infantilism; severe muscular hypotonia and poor responsiveness to external stimuli decrease with age; a small deletion is demonstrable in the paternal-derived chromosome 15q11-13 in many cases; some cases are due to maternal uniparental disomy (i.e., both chromosomes 15 are derived from the mother).
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Prader-Willi syndrome: A syndrome characterized at birth by the lack of spontaneous movements and protective reflexes, thus giving an appearance of severe brain damage. Profound hypotonia may cause asphyxia. Sucking and swallowing reflexes are absent or decreased. Deficient thermoregulation, amyotonia, and hypogonadism are usually associated. After a few weeks or months, the affected infants become more responsive and more alert. Areflexia disappears gradually but hypotonia may persist longer. This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity, hypotonia, hyperlaxity, delayed bone maturation, and multiple orofacial and other disoders. There is a tendency to develop diabetes mellitus and cardiac failure in some patients. Pain insensitivity is common. Prader-Willi habitus associated with osteopenia and camptodactyly is known as the Urban-Rogers-Meyer syndrome.
Source: Diseases Database

Prader-Willi syndrome: congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15 .
Source: CRISP

Prader-Willi syndrome: 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).
Source: MeSH 2007

Prader-Willi syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Prader-Willi syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Prader-Willi syndrome, or a subtype of Prader-Willi syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Prader-Willi syndrome as a "rare disease".

Source - Orphanet

Prader-Willi syndrome as a Disease

Prader-Willi syndrome (medical condition): See Prader-Willi syndrome (disease information).
  »Introduction: Prader-Willi syndrome
  »Symptoms of Prader-Willi syndrome

Prader-Willi syndrome: Prader-Willi syndrome is listed as a type of (or associated with) the following medical conditions in our database: Chromosome conditions, Imprinted chromosome conditions

Prader-Willi syndrome: Article Excerpts

Prader-Willi syndrome (PWS) is an uncommon inherited disorder characterized by mental retardation, decreased muscle tone, short stature, emotional lability and an insatiable appetite which can lead to life-threatening obesity. The syndrome was first described in 1956 by Drs. Prader, Labhart, and Willi. (Source: Genes and Disease by the National Center for Biotechnology)

More information on medical condition: Prader-Willi syndrome:

• Information about Prader-Willi syndrome
• Basic Summary for Prader-Willi syndrome
• Symptoms of Prader-Willi syndrome
• Complications of Prader-Willi syndrome

Terms associated with Prader-Willi syndrome:

Terms Similar to Prader-Willi syndrome:

• Labhardt-Willi-Prader-Fanconi syndrome

Source: Diseases Database

• Diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet
• PWS
• Prader-Labhart-Willi syndrome
• Willi-Prader syndrome

Source - NIH

• Labhart-Willi Syndrome
• Royer Syndrome

Source - MeSH 2007

Related Topics

• Mental Retardation

Source - MeSH 2007

Broader terms for Prader-Willi syndrome

• Mental Retardation
• Abnormalities, Multiple
• Chromosome Disorders
• Obesity

Source - MeSH 2007

• chromosome disorder
• congenital disorder
• mental retardation
• syndrome

Source - CRISP

Hierarchical classifications of Prader-Willi syndrome

The following list attempts to classify Prader-Willi syndrome into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

• Nervous System Diseases
  • Neurologic Manifestations
    • Neurobehavioral Manifestations
      • Mental Retardation
        • Prader-Willi Syndrome

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Abnormalities
    • Abnormalities, Multiple
      • Prader-Willi Syndrome

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Abnormalities
    • Chromosome Disorders
      • Prader-Willi Syndrome

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Chromosome Disorders
      • Prader-Willi Syndrome

MeSH 2007 Hierarchy

• Nutritional and Metabolic Diseases
  • Nutrition Disorders
    • Overnutrition
      • Obesity
        • Prader-Willi Syndrome

Disease Ontology - OBO (Open Biomedical Ontologies)

• Other specified anomalies
• Other and unspecified congenital anomalies
• Congenital anomaly, unspecified
• DISEASES AND INJURIES
• Disease Ontology V2.1 2005

External links related to: Prader-Willi syndrome

• Prader-Willi syndrome - Genetics Home Reference
• Prader-Labhardt-Willy syndrome (www.whonamedit.com)
• OMIM - PRADER-WILLI SYNDROME; PWS
• GeneReviews: Prader-Willi Syndrome
• eMedicine - Prader-Willi Syndrome : Article by Ann Scheimann, MD
• Search Jablonski's Syndromes Database

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

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