Angelman syndrome facts*
*Angelman syndrome facts Medically Edited by: Melissa Conrad Stöppler
- 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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