| altLabel |
Prader Willi Syndrome Willi Prader Syndrome Labhart-Willi Syndrome Syndrome, Prader-Labhart-Willi Labhart Willi Syndrome Royers Syndrome Royer Syndrome Syndrome, Labhart-Willi Syndrome, Royer's Labhart Willi Prader Fanconi Syndrome Labhart-Willi-Prader-Fanconi Syndrome Syndrome, Willi-Prader Prader Labhart Willi Syndrome Syndrome, Royer Syndrome, Prader-Willi Prader-Labhart-Willi Syndrome Syndrome, Labhart-Willi-Prader-Fanconi Royer's Syndrome Willi-Prader Syndrome
|
| definition |
An association of DIABETES MELLITUS with 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)
|