Angelman Syndrome (also known as Syndrome, Angelman, Happy Puppet 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 l
NIH MeSH · D017204Diseases
Angelman Syndrome
Also known asSyndrome, Angelman · Happy Puppet Syndrome · Syndrome, Happy Puppet · Puppet Children · Children, Puppet
Definition
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 classification
C10.228.662.075
C16.131.077.095
C16.131.260.040
C16.320.180.040
C16.320.447.250
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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) This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Angelman Syndrome known by any other names?
Yes. Angelman Syndrome is also referred to as Syndrome, Angelman, Happy Puppet Syndrome, Syndrome, Happy Puppet, Puppet Children in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Angelman Syndrome sit in the medical classification?
Angelman Syndrome falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C10.228.662.075, C16.131.077.095, C16.131.260.040). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Angelman Syndrome?
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