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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.


  • 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).


Chromosome Disorder Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724


Tel: (561)395-4252

Fax: (561)395-4252



PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)

21800 Town Center Plaza

Suite 266A-633

Sterling, VA 20164


Tel: (972)231-0035

Fax: (972)499-1832



American Society for Deaf Children

800 Florida Avenue NE


Washington, DC 20002-3695

Tel: (866)895-4206

Fax: (410)795-0965

Tel: (800)942-2732



Smith-Magenis Syndrome Foundation

London, WC1 N3XX

United Kingdom

Tel: 02074195007



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


Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



Taylor Bug Kisses Foundation

2218 Boulder Dr.

Normal, IL 61761

Tel: (309)451-1431



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 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 or email

Last Updated:  4/18/2008

Copyright  1993, 1994, 1995, 1997, 2005 National Organization for Rare Disorders, Inc.

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