Prader-Willi Syndrome |
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| Labhart-Willi-Prader-Fanconi Syndrome; Royer's Syndrome; Labhart Willi Prader Fanconi Syndrome; Labhart Willi Syndrome; Prader Willi Syndrome; Royers Syndrome; Syndrome, Labhart-Willi; Syndrome, Labhart-Willi-Prader-Fanconi; Syndrome, Prader-Willi | |
| 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) | |