Prader-Willi Syndrome

**Definition:** 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)

**Tree numbers:** - C10.597.606.360.690 - C16.131.077.730 - C16.131.260.700 - C16.320.180.700 - C16.320.447.500 - C18.654.726.750.500.740

**Synonyms:** - Labhart-Willi Syndrome - Labhart-Willi-Prader-Fanconi Syndrome - Willi-Prader Syndrome - Prader Labhart Willi Syndrome - Prader-Labhart-Willi Syndrome