What is Angelman syndrome?
Angelman syndrome is a genetic disorder that causes severe intellectual disabilities. Most individuals with Angelman syndrome do not speak, or use only a few words. Angelman syndrome affects the way that a person's brain coordinates their movements, called ataxia. Ataxia can cause jerky movements and unsteady walking. Individuals with Angelman syndrome are often recognized as having a happy and excitable personality, with frequent bouts of laughter, smiling, hand-flapping or waving for no apparent reason. Most individuals with Angelman syndrome have a small head size, called microcephaly, as well as sleep disorders and seizures. There are a few facial features that are often seen in Angelman syndrome, including a prominent chin (prognathia), a protruding tongue, and a broad mouth with widely-spaced teeth, but in general, most individuals with Angelman syndrome resemble their families more than they resemble one another.
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Are there other names for Angelman syndrome?
Angelman syndrome was formerly known as happy puppet syndrome, due to a happy personality and an uncooordinated walk (ataxia), however, this term is no longer used. Angelman syndrome may also be known by its abbreviation, AS.
How often does Angelman syndrome happen?
Angelman syndrome occurs in about 1 in 24,000 to 1 in 12,000 individuals. However, there may be more people with Angelman syndrome who have symptoms but have not been diagnosed.
What is the usual abbreviation for Angelman syndrome?
Angelman syndrome is most often abbreviated as AS.