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)
Year introduced: 1977
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Tree Number(s): C10.597.606.360.690, C16.131.077.730, C16.131.260.700, C16.320.180.700, C16.320.447.500, C18.654.726.750.500.740
MeSH Unique ID: D011218
Entry Terms:
- Prader Willi Syndrome
- Syndrome, Prader-Willi
- Prader-Labhart-Willi Syndrome
- Syndrome, Prader-Labhart-Willi
- Willi-Prader Syndrome
- Syndrome, Willi-Prader
- Willi Prader Syndrome
- Prader Labhart Willi Syndrome
- Labhart-Willi Syndrome
- Labhart Willi Syndrome
- Syndrome, Labhart-Willi
- Labhart-Willi-Prader-Fanconi Syndrome
- Labhart Willi Prader Fanconi Syndrome
- Syndrome, Labhart-Willi-Prader-Fanconi
- Royer Syndrome
- Syndrome, Royer
- Royer's Syndrome
- Royers Syndrome
- Syndrome, Royer's
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