Angelman Syndrome

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Is a:
  • Disease or Syndrome
Definition:
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)
Synonyms:
  • Children, Puppet
  • Happy Puppet Syndrome
  • Puppet Children
  • Syndrome, Angelman
  • Syndrome, Happy Puppet
Broader Topics:
Narrower Topics:
  • None
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