Angelman Syndrome (AS)

Angelman Syndrome (AS) (pejoratively referred to in the past as “Happy Puppet Syndrome”)is a genetic disorder that results in microcephaly, facial dysmorphia, severe intellectual disability, developmental disability, limited speech, balance and movement problems, seizures, and sleep difficulties.

• AS affects 1 in 12,000 to 20,000 individuals.^[1]
• Males and females are affected equally

• The prognosis varies greatly depending on the severity of symptoms affecting the individual

• AS is closely linked to a very similar genetic disorder, Prader-Willi syndrome. In both disorders, region 15q11-13 of chromosome 15 is involved. In AS, the loss of the UBE3A gene in this region on the maternal chromosome causes the syndrome, while a loss of a different cluster of genes within the same region on the paternal chromosome causes PWS.

• Autism spectrum disorder
• Rett syndrome
• Prader–Willi syndrome