The conference will feature leading national and international experts
on SMS, including the co-discoverers of the syndrome. Over 45 families
with an affected child will attend from all over the U.S. The
conference includes segments on the genetics of SMS, educational
strategies, family stress, empowering parents, and current research.
For families with newly diagnosed child with SMS, the search for
information on SMS is often a formidable task, since public and
professional awareness about SMS and its implications for families is
not widespread. Newly identified SMS families require up-to-date as
well as emotional and peer support, enabling them to better care for
their child with SMS. PRISMS, the support group for Parents and
Researchers Interested in Smith-Magenis Syndrome, serves as a
clearinghouse for information and resources about SMS.
Smith-Magenis Syndrome (SMS) is a distinct and clinically recognizable
contiguous gene syndrome characterized by a specific pattern of
physical, behavioral and developmental features. It is caused by a
deletion of chromosome 17. The first group of children was described in
the early 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, SMS is rare and is estimated to occur in 1 of every 25,000
births. SMS is under diagnosed but with improved molecular cytogenetic
techniques and increased professional awareness of SMS, the number of
persons identified grows every year.
The conference is being co-sponsored with the Office of Rare Diseases
and the National Human Genome Research Institute (NHGRI) at the
National Institutes of Health, as well as MARHGN.
To Arrange Interview Contact:
Jeffrey Witherly (301) 402-8564
Galen Perry (301) 402-3035
Outreach and Education
NHGRI Division of Intramural Research