- Cigna Medicare
- Individual & Family Plans
- International Plans
- Offered Cigna Through Work?
- Find a Doctor
- Informed on Reform
- Health and Wellness »
- Cigna Home Delivery Pharmacy
Smith Magenis Syndrome
National Organization for Rare Disorders, Inc.
- chromosome 17, interstitial deletion 17p
- Smith-Magenis chromosome region
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).
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)
21800 Town Center Plaza
Sterling, VA 20164
American Society for Deaf Children
800 Florida Avenue NE
Washington, DC 20002-3695
57 Allen Road
Northants, Intl NN10 0DY
Tel: 01933 389951
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
Taylor Bug Kisses Foundation
2218 Boulder Dr.
Normal, IL 61761
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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.
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 email@example.com
Last Updated: 4/18/2008
Copyright 1993, 1994, 1995, 1997, 2005 National Organization for Rare Disorders, Inc.