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Angelman Syndrome
Important
It is possible that the main title of the report Angelman Syndromeis not the name you expected.
Synonyms
- AS
- Happy Puppet Syndrome (obsolete)
Disorder Subdivisions
- None
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.
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/
Angelman Syndrome Foundation, Inc.
3015 E. New York Street 3015 E. New York Street
Suite A2265
Aurora
IL
60504
USA
Tel: (630)978-4245
Fax: (630)978-7408
800: (800)432-6435
info@angelman.org
http://www.angelman.org
Epilepsy Foundation
4351 Garden City Drive
Landover
MD
20785
Tel: (301)459-3700
Fax: (301)577-2684
800: (800)332-1000
TDD: (800)332-2070
postmaster@efa.org
http://www.epilepsyfoundation.org
Angelman Syndrome Support and Education Research Trust (ASSERT)
PO Box 13694
Musselburgh
Intl
EH21 6XZ
United Kingdom
Tel: 011-44-1980-652-617
contact@angelmanuk.org
http://www.angelmanuk.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/
Canadian Angelman Syndrome Society
P.O. Box 37
Priddis
Alberta
Intl
T0L 1W0
Canada
Tel: 4039312415
Fax: 4039312415
cass01@telus.net
http://www.angelmancanada.org
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda
MD
20892
Tel: (301)496-5133
Fax: (301)496-7101
http://www.nih.gov/hichd/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 11/4/2008
Copyright 1987, 1990, 1994, 1995, 1998, 1999, 2000, 2002, 2007, 2008 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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