U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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)

Year introduced: 1977

PubMed search builder options

Subheadings:

Tree Number(s): 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

MeSH Unique ID: D011218

Entry Terms:

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

Previous Indexing:

See Also:

Supplemental Content

Loading ...