Angelman syndrome

Overview

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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/angelman-syndrome-8658/overview/5488 • DATE UPDATED: 2016-06-25

References

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