Prader-Willi Syndrome (definition)

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Prader-Willi Syndrome

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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)

See Also Intellectual Disability

Other names Royer Syndrome; Labhart-Willi Syndrome; Willi Prader Syndrome; Syndrome, Willi-Prader; Syndrome, Royer's; Syndrome, Royer; Syndrome, Prader-Willi; Syndrome, Labhart-Willi-Prader-Fanconi; Syndrome, Labhart-Willi; Royers Syndrome; Prader Willi Syndrome; Labhart Willi Syndrome; Labhart Willi Prader Fanconi Syndrome; Willi-Prader Syndrome; Royer's Syndrome; Prader Labhart Willi Syndrome; Labhart-Willi-Prader-Fanconi Syndrome

Substance	CAS Registry & name	Categories	Source
C15orf2 protein, human	0	*Nerve Tissue Proteins Prader-Willi Syndrome.	Neurogenetics 2010 May;11(2):153-61
Prader-Willi habitus, osteopenia, and camptodactyly	0	Osteoporosis Prader-Willi Syndrome.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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