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Prader-Willi syndrome (medical condition): Prader-Willi syndrome and Angelman syndrome are two rare chromosome disorders, with very different symptoms, but 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
These medical condition or symptom topics may be relevant to medical information for Prader-Willi syndrome:
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, 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 (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:
Prader-Willi syndrome (PWS) is an uncommon inherited disorder characterized by mental retardation, decreased muscle tone,...(Source: Genes and Disease by the National Center for Biotechnology)
These medical disease topics may be related to Prader-Willi syndrome:
Source: Diseases Database
Source - NIH
Source - MeSH 2007
Source - MeSH 2007
Source - MeSH 2007
Source - CRISP
The following list attempts to classify Prader-Willi syndrome into categories where each line is subset of the next.
Source: Diseases Database
Search to find out more about Prader-Willi syndrome:
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