Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Other congenital malformations (Q80-Q89)»Prader-Willi syndrome (Q87.11)
Q87.11
Prader-Willi syndrome
Related indications (MeSH) (1)
Prader-Willi Syndrome33 drugs (17 approved, 16 experimental)
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)