Angelman syndrome

 a genetic neurological disorder.

 also named ‘happy puppet’ syndrome as affected individuals typically have a happy, sociable personality.

etiology:

mutation on chromosome 15.

occurs in 1 in 15,000 live births.

Manifestations:

characterized by:

  1. severe motor and intellectual retardation
  2. microcephaly
  3. ataxia
  4. frequent jerky limb movements and flapping of the arms and hands
  5. hypotonia
  6. hyperactivity
  7. seizures
  8. absence of speech
  9. frequent smiling
  10. outbursts of laughter
  11. an unusual facies (facial appearance) – characterized by macrostomia (large mouth), a large jaw and open-mouthed expression, and a great propensity for protruding the tongue (tongue thrusting).

Angelman Syndrome. 2010. MedicineNet.com. retrieved May 10, 2010 from http://www.medicinenet.com/angelman_syndrome/glossary.htm

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