Smith Magenis Syndrome
National Organization for Rare Disorders, Inc.
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.
- chromosome 17, interstitial deletion 17p
- Chromosome 17p11.2 deletion syndrome
- Smith-Magenis chromosome region
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.
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.
American Society for Deaf Children
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Chromosome Disorder Outreach, Inc.
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Genetic and Rare Diseases (GARD) Information Center
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PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)
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- Sterling, VA 20164
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- Website: http://www.prisms.org
Smith-Magenis Syndrome Foundation
- London, WC1 N3XX
- United Kingdom
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- Website: http://www.smith-magenis.co.uk/
Taylor Bug Kisses Foundation
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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 firstname.lastname@example.org
Last Updated: 12/29/1969
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