It is possible that the main title of the report Angelman Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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, 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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1660 L Street, NW, Suite 301
Washington, DC 20036
Angelman Syndrome Foundation, Inc.
4255 Westbrook Drive
Aurora, IL 60504
8301 Professional Place
Landover, MD 20785
Angelman Syndrome Support Education and Research Trust
PO Box 4962
Nuneaton, Intl CV11 9FD
Tel: 0300 999 0102
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Canadian Angelman Syndrome Society
P.O. Box 37
Alberta, Intl T0L 1W0
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Foundation for Angelman Syndrome Therapeutics (FAST)
P.O. Box 608
Downers Grove, IL 60515-0608
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 firstname.lastname@example.org
Last Updated: 11/4/2008
Copyright 1987, 1990, 1994, 1995, 1998, 1999, 2000, 2002, 2007, 2008 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.