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    Smith Magenis Syndrome

    Important
    It is possible that the main title of the report Smith Magenis 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

    • SMCR
    • SMS
    • chromosome 17, interstitial deletion 17p
    • Smith-Magenis chromosome region
    • Chromosome 17p11.2 deletion syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems. Common symptoms include distinctive facial features, skeletal malformations, varying degrees of intellectual disability, speech and motor delays, sleep disturbances, and self-injurious or attention-seeking behaviors. The specific symptoms present in each case can vary dramatically from one individual to another. Approximately 90% of cases are caused when a portion of chromosome is missing or deleted (monosomic). This deleted portion within chromosome 17p11.2 includes the RAI1 gene, which is believed to play a major role in the development of the disorder. Other genes within the deleted segment may also play a role in variable features in the syndrome, but it is not fully understood how significant a role they play in the development of SMS. In the remaining cases, there is no deleted material on chromosome 17; these cases are caused by mutations in the RAI1 gene.

    Introduction
    Smith-Magenis syndrome was first reported in the medical literature in 1982 by Ann Smith, a genetic counselor, and colleagues. In 1986, Smith and Dr. R. Ellen Magenis identified nine patients with the disorder further delineating the syndrome. Since that time numerous additional cases have been identified allowing physicians/clinicians to develop a better understanding about this complex disorder.

    Resources

    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

    Chromosome Disorder Outreach, Inc.
    P.O. Box 724
    Boca Raton, FL 33429-0724
    USA
    Tel: (561)395-4252
    Fax: (561)395-4252
    Email: info@chromodisorder.org
    Internet: http://www.chromodisorder.org/CDO/

    PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)
    21800 Town Center Plaza
    Suite 266A-633
    Sterling, VA 20164
    USA
    Tel: (972)231-0035
    Fax: (972)499-1832
    Email: info@prisms.org
    Internet: http://www.prisms.org

    American Society for Deaf Children
    800 Florida Avenue NE
    2047
    Washington, DC 20002-3695
    Tel: (866)895-4206
    Fax: (410)795-0965
    Tel: (800)942-2732
    Email: asdc@deafchildren.org
    Internet: http://www.deafchildren.org

    Smith-Magenis Syndrome Foundation
    London, WC1 N3XX
    United Kingdom
    Tel: 02074195007
    Email: info@smith-magenis.co.uk
    Internet: http://www.smith-magenis.co.uk/

    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

    Taylor Bug Kisses Foundation (Deleted)
    2218 Boulder Dr.
    Normal, IL 61761
    Tel: (309)451-1431
    Email: shannon@taylorbugkisses.com
    Internet: http://www.taylorbugkisses.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: 8/13/2014
    Copyright 1993, 1994, 1995, 1997, 2005, 2014 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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