Angelman Syndrome

Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene (ubiquitin protein ligase E3A).

National Organization for Rare Disorders (NORD) with assistance of Charles Williams, MD, Emeritus Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine; member of the Angelman Syndrome Foundation Scientific Advisory Committee.

At this time, therapies for Angelman syndrome are symptomatic and supportive. Several clinical trials on Angelman syndrome are ongoing (see below) but there is no genetic therapy or curative medication available. Advances in neuroscience and in gene therapy techniques however hold great potential for providing meaningful treatment and/or cure of the syndrome.

The general physical health of those with Angelman syndrome is good and usual pediatric care, including customary childhood immunizations, can be provided.

References

For More Information

Learn more about genetics on our Genetic Disorders page.

Synonyms of Angelman Syndrome

  • AS
  • happy puppet syndrome (obsolete)
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