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NORD is very grateful to Charles Williams, MD, Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine; Chair, Angelman Syndrome Foundation Scientific Advisory Committee, for assistance in the preparation of this report.
Synonyms of Angelman Syndrome
- happy puppet syndrome (obsolete)
- No subdivisions found.
Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delays 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.
Angelman syndrome was first described in the medical literature in 1965 by Dr. Harry Angelman, an English physician. The characteristic findings of Angelman syndrome are not usually apparent at birth and diagnosis of the disorder is usually made between 1 and 4 years of age.
Organizations related to Angelman Syndrome
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.
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