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Angelman Syndrome

Angelman syndrome facts*

*Angelman syndrome facts Medically Edited by:

  • Angelman syndrome is a genetic disorder with characteristic features that include severe speech impairment, developmental delay, intellectual disability, and ataxia (problems with movement and balance).
  • Angelman syndrome is named after the physician Harry Angelman who first delineated the syndrome in 1965.
  • Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
  • Most children with Angelman syndrome have microcephaly (small head size) and epilepsy (recurrent seizures).
  • The developmental delay of Angelman syndrome generally becomes noticeable by the age of 6 to 12 months.
  • Adults with Angelman syndrome have facial features that are distinct and are often described as "coarse."
  • Some of the characteristic features of Angelman syndrome are a result from the loss of function of a gene called UBE3A.
  • The life expectancy for individuals with Angelman syndrome appears to be nearly normal.
Medically Reviewed by a Doctor on 4/1/2014

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Source: MedicineNet.com
http://www.medicinenet.com/angelman_syndrome/article.htm

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