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Copyright 1993, 1994, 1995, 1997, 2005
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
800 Florida Avenue NE, #2047
Washington DC 20002-3695
Phone #: 866-895-4206
800 #: 800-942-2732
e-mail: asdc@deafchildren.org
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: info@chromodisorder.org
Home page: http://www.chromodisorder.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
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: getinfo@madisonsfoundation.org
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: info@prisms.org
Home page: http://www.prisms.org
- Smith-Magenis Syndrome Foundation
PO Box 1490
None Intl BT71 4YE
Phone #: N/A
800 #: --
e-mail: info@smith-magenis.co.uk
Home page: http://www.smith-magenis.co.uk
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