Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Smith Magenis Syndrome


Synonyms of Smith Magenis Syndrome
  • chromosome 17, interstitial deletion 17p
  • SMCR
  • Smith-Magenis chromosome region
  • SMS

Disorder Subdivisions



    General Discussion
    Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities.
    The facial features include a broad square-shaped face, an abnormally short, broad head (brachycephaly); an abnormally broad, flat midface; a broad nasal bridge; an unusually prominent jaw (prognathism); eyebrows growing across the base of the nose (synophrys); a short full tipped nose and fleshy upper lip with a tented appearance.

    Developmental delays and intelligence are variable but most affected individuals have mild to moderate mental retardation. Behavioral abnormalities include sleep disturbances, repetitive movements (stereotypies) and a tendency to inflict harm on oneself.

    Smith-Magenis syndrome occurs when there is a missing piece of chromosome on the short arm of chromosome 17 (17p11.2).

    Organizations related to Smith Magenis Syndrome
    • American Society for Deaf Children
      PO Box 3355
      Gettysburg PA 17325
      Phone #: 800-942-6084
      800 #: 800-942-2732
      e-mail: ASDC1@aol.com
      Home page: http://www.deafchildren.org
    • Chromosome Disorder Outreach, Inc.
      P.O. Box 724
      Boca Raton FL 33429-0724
      Phone #: 561-395-4252
      800 #: N/A
      e-mail: info@chromodisorder.org
      Home page: http://www.chromodisorder.org
    • 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
    • PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)
      21800 Town Center Plaza,Suite #266A-633
      Sterling VA 20164
      Phone #: 972-231-0035
      800 #: --
      e-mail: info@prisms.org
      Home page: http://www.prisms.org
    • Smith-Magenis Syndrome Foundation
      PO Box 1490
      None Intl BT71 4YE
      Phone #: N/A
      800 #: --
      e-mail: info@smith-magenis.co.uk
      Home page: http://www.smith-magenis.co.uk



    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