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

Disorder Subdivisions

None

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).

Resources

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

PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)
21800 Town Center Plaza,Suite #266A-633
Sterling, VA 20164
USA
Tel: (972)231-0035
Fax: (413)826-6539
Email: info@prisms.org
Internet: http://www.prisms.org

American Society for Deaf Children
PO Box 3355
Gettysburg, PA 17325
Tel: (800)942-6084
Fax: (717)334-8808
Tel: (800)942-2732
TDD: (717)334-7922
Email: ASDC1@aol.com
Internet: http://www.deafchildren.org

Smith-Magenis Syndrome Foundation
PO Box 1490
Intl BT71 4YE
N. Ireland
Email: info@smith-magenis.co.uk
Internet: http://www.smith-magenis.co.uk

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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

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: 4/18/2008
Copyright 1993, 1994, 1995, 1997, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 18, 2008

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.