Smith Magenis Syndrome / Disease

Diseases & Conditions

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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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.prisms.org
Smith-Magenis Syndrome Foundation
PO Box 1490
None Intl BT71 4YE
Phone #: N/A
800 #: --
e-mail: [email protected]
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