Prader-Willi Syndrome
Synonyms
Labhart Willi Prader Fanconi Syndrome
Labhart Willi Syndrome
Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Prader Labhart Willi Syndrome
Prader Willi Syndrome
Prader-Labhart-Willi Syndrome
Royer Syndrome
Royer's Syndrome
Royers Syndrome
Syndrome, Labhart-Willi
Syndrome, Labhart-Willi-Prader-Fanconi
Syndrome, Prader-Labhart-Willi
Syndrome, Prader-Willi
Syndrome, Royer
Syndrome, Royer's
Syndrome, Willi-Prader
Willi Prader Syndrome
Willi-Prader 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)
See Also