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Smith-Magenis
Syndrome (SMS)
"Smith-Magenis syndrome (SMS) is a chromosomal disorder characterized
by a specific pattern of physical, behavioral and developmental features.
It is caused by a missing piece of genetic material from chromosome 17,
referred to as deletion 17p11.2.
The first group of children was described in the 1980's by Ann C.M. Smith,
M.A., a genetic counselor, and Ellen Magenis, M.D., a cytogeneticist. Although
the exact incidence is not known, it is estimated that SMS occurs in 1 out
of 25,000 births. SMS is underdiagnosed, but as awareness of it increases,
the number of people identified grows every year."- PRISMS (see
below)
Follow these links to learn more about
Smith-Magenis Syndrome:
Parents & Researchers
Interested in Smith-Magenis Syndrome (PRISMS)
-SMS background, clinical and behavioral features, educational
concerns, references and links to genetic counseling services
Online Mendelian Inheritance in Man (OMIM)
-research history, medical references as well as links
to other clinical/medical/scientific databases
National Organization for Rare Diseases
-description, alternate link to support group
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