En autosomal dominant rubbning orsakad av deletion i paternal kromosom 15(15q-q13) långa arm eller maternal nedärvning av båda kromosomerna 15 av ett par (uniparental disomi). Kliniska manifestationer inkluderar psykisk funktionsnedsättning, muskelhypotoni, överätning, fetma, kortväxthet, hypogonadism, skelning och sjukligt sömnbehov.
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)
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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