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)

Also Known As:

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

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Nervous System Diseases: 3643

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Neurologic Manifestations: 3015

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Neurobehavioral Manifestations: 323

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Mental Retardation: 2676

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Prader-Willi Syndrome: 506

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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 449

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Congenital Abnormalities: 10008

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Multiple Abnormalities: 126

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Prader-Willi Syndrome: 506

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Chromosome Disorders: 64

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Prader-Willi Syndrome: 506

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Inborn Genetic Diseases: 578

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Chromosome Disorders: 64

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Prader-Willi Syndrome: 506

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Nutritional and Metabolic Diseases

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Nutrition Disorders: 189

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Overnutrition: 121

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Obesity: 28196

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Prader-Willi Syndrome: 506

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