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Copyright 1987, 1990, 1994, 1995, 1998, 1999, 2000, 2002, 2007, 2008
NORD is very grateful to Charles Williams, MD, Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, for assistance in the preparation of this report.
Synonyms of Angelman Syndrome
- AS
- Happy Puppet Syndrome (obsolete)
Disorder Subdivisions
General Discussion
Angelman syndrome (AS) is a rare genetic neurological disorder characterized by severe developmental delays and learning disabilities; the absence or near absence of speech; an inability to coordinate voluntary movements (ataxia) and tremulous 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, often at inappropriate times. Although affected individuals 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 language to understand simple commands. Additional symptoms may occur in some cases including seizures, sleep disorders and feeding difficulties. Some affected children may have distinctive facial features.
Angelman syndrome is caused by deletion of or abnormal expression of the UBE3A gene that is located on the long arm (q) of chromosome 15 (15q11-q13). In most affected individuals, Angelman syndrome appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported.
Organizations related to Angelman Syndrome
- Angelman Syndrome Foundation, Inc.
4255 Westbrook Drive
3015 E. New York Street
Suite 219
Aurora IL 60504
Phone #: 630-978-4245
800 #: 800-432-6435
e-mail: info@angelman.org
Home page: http://www.angelman.org
- Angelman Syndrome Support and Education Research Trust (ASSERT)
PO Box 13694
Musselburgh Intl EH21 6XZ
Phone #: 011--44--1980-652-617
800 #: --
e-mail: contact@angelmanuk.org
Home page: http://www.angelmanuk.org
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Canadian Angelman Syndrome Society
P.O. Box 37
Priddis
Alberta Intl T0L 1W0
Phone #: 403-931-2415
800 #: --
e-mail: cass01@telus.net
Home page: http://www.angelmancanada.org
- Epilepsy Foundation
8301 Professional Place
Landover MD 20785
Phone #: 301-459-3700
800 #: 800-332-1000
e-mail: info@efa.org
Home page: http://www.epilepsyfoundation.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
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