Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

See Also

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1977

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1968-1976)
  • Carbohydrate Metabolism, Inborn Errors (1969-1976)
  • Hypogonadism (1966-1976)
  • Mental Retardation (1966-1976)
  • Obesity (1966-1976)

MeSH Hierarchy

Tree Numbers

  1. C10w.597.606.360w.690w
  2. C16w.131w.077w.730w
  3. C16w.131w.260w.700w
  4. C16w.320w.180w.700w
  5. C16w.320w.447.500w
  6. C18.654w.726w.750w.500w.740w

MeSH Record

NLM Classification

QS 675

AMA Style

References

  1. National Library of Medicine. Prader-Willi Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D011218. http://id.nlm.nih.gov/mesh/2026/D011218
  2. Prader-Willi Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Prader%E2%80%93Willi_syndrome
  3. Prader-Willi Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q594013