Prader-Willi Syndrome

Overview

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Is a:

Disease or Syndrome
Congenital Abnormality

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) An association of diabetes mellitus with Prader-Willi Syndrome.

Synonyms:

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

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