Diseases

Angelman Syndrome

A syndrome characterized by multiple abnormalities, INTELLECTUAL DISABILITY, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A syndrome characterized by multiple abnormalities, INTELLECTUAL DISABILITY, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

5 entry terms
  • Happy Puppet Syndrome
  • Puppet Children
  • Children, Puppet
  • Syndrome, Angelman
  • Syndrome, Happy Puppet

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

93

MeSH Record

Previous Indexing

  • Ataxia (1972-1992)
  • Mental Disorders (1967-1992)
  • Movement Disorders (1967-1992)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.662w.075w
  2. C16w.131w.077w.095w
  3. C16w.131w.260w.040w
  4. C16w.320w.180w.040w
  5. C16w.320w.447.250w

AMA Style

References

  1. National Library of Medicine. Angelman Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D017204. http://id.nlm.nih.gov/mesh/2026/D017204
  2. Angelman Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Angelman_syndrome
  3. Angelman Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q535364