"Angelman Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, 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)
| Descriptor ID |
D017204
|
| MeSH Number(s) |
C10.228.662.075 C16.131.077.095 C16.131.260.040 C16.320.180.040
|
| Concept/Terms |
Angelman Syndrome- Angelman Syndrome
- Syndrome, Angelman
- Puppet Children
- Children, Puppet
- Happy Puppet Syndrome
- Syndrome, Happy Puppet
|
Below are MeSH descriptors whose meaning is more general than "Angelman Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Angelman Syndrome".
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 |
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Below are the most recent publications written about "Angelman Syndrome" by people in Profiles.