NINDS Angelman Syndrome Information Page

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What is Angelman Syndrome?

Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.

Is there any treatment?

What is the prognosis?

What research is being done?

NIH Patient Recruitment for Angelman Syndrome Clinical Trials

• At NIH Clinical Center
• Throughout the U.S. and Worldwide

Organizations

Angelman Syndrome Foundation 4255 Westbrook Drive Suite 219 Aurora, IL   60504 info@angelman.org http://www.angelman.org Tel: 630-978-4245 800-432-6435 Fax: 630-978-7408	The Arc of the United States 1010 Wayne Avenue Suite 650 Silver Spring, MD   20910 Info@thearc.org http://www.thearc.org Tel: 301-565-3842 Fax: 301-565-3843 or -5342
Prader-Willi Syndrome Association 5700 Midnight Pass Road Suite #6 Sarasota, FL   34242-3000 national@pwsausa.org http://www.pwsausa.org Tel: 941-312-0400 800-926-4797 Fax: 941-312-0142

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National Institute of Neurological Disorders and Stroke
National Institutes of Health
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Last updated February 08, 2007