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
Smith-Magenis Syndrome Foundation
London, WC1 N3XX
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
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Last Updated: 4/18/2008
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