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    Angelman Syndrome

    Important
    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.

    Synonyms

    • AS
    • happy puppet syndrome (obsolete)

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    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.

    Introduction
    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.

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    Angelman Syndrome Foundation, Inc.
    4255 Westbrook Drive
    Suite 219
    Aurora, IL 60504
    USA
    Tel: (630)978-4245
    Fax: (630)978-7408
    Tel: (800)432-6435
    Email: info@angelman.org
    Internet: http://www.angelman.org

    Epilepsy Foundation
    8301 Professional Place
    Landover, MD 20785-7223
    Tel: (866)330-2718
    Fax: (877)687-4878
    Tel: (800)332-1000
    TDD: (800)332-2070
    Email: ContactUs@efa.org
    Internet: http://www.epilepsyfoundation.org

    Angelman Syndrome Support Education and Research Trust
    PO Box 4962
    Nuneaton, CV11 9FD
    United Kingdom
    Tel: 03009990102
    Email: assert@angelmanuk.org
    Internet: http://www.angelmanuk.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Canadian Angelman Syndrome Society
    P.O. Box 37
    Priddis
    Alberta, T0L 1W0
    Canada
    Tel: 4039312415
    Fax: 4039312415
    Email: info@AngelmanCanada.org
    Internet: http://www.angelmancanada.org

    NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda, MD 20892
    Fax: (866)760-5947
    Tel: (800)370-2943
    TDD: (888)320-6942
    Email: NICHDInformationResourceCenter@mail.nih.gov
    Internet: http://www.nichd.nih.gov/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Foundation for Angelman Syndrome Therapeutics (FAST)
    P.O. Box 608
    Downers Grove, IL 60515-0608
    Tel: (630)852-3278
    Fax: (630)852-3270
    Tel: (866)783-0078
    Email: info@CureAngelman.org
    Internet: http://www.CureAngelman.org

    For a Complete Report:

    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 orphan@rarediseases.org

    Last Updated: 7/9/2012
    Copyright 1987, 1990, 1994, 1995, 1998, 1999, 2000, 2002, 2007, 2008, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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