Angelman Syndrome

*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.