Keywords:Smith-Magenis Syndrome , sms, disorders.

The SMS Mailing list is designed to promote the exchange of information
and communication about Smith-Magenis syndrome among parents, professionals
and researchers working with this condition. Members of the SMS Mailing list will include parents and/or relatives of persons with SMS, as well
as special educators, health professionals and researchers
working specifically with this rare condition.

For more information visit the PRISMS homepage at http://www.prisms.org/ Please note that this list is not a function of PRISMS, Inc., but I include a link to their homepage as a service to you.

Background info on SMS:
Smith-Magenis syndrome (SMS), a probably contiguous gene syndrome, is
caused by an interstitial deletion of chromosome 17p11.2. First reported
by Smith et al. in 1982, over 100 individuals representing a diversity of
ethnic backgrounds have been identified worldwide. SMS is rare and
estimated to occur in 1 in 25,000 births. The phenotype of SMS includes a
characteristic pattern of physical features, a hoarse deep voice, speech
delay with or without associated hearing loss; clinical signs of peripheral
neuropathy; variable levels of mental retardation; and neurobehavioral
problems including sleep disturbance, outbursts and self-injurious
behaviors. The diagnosis is often delayed in infancy due to relatively
subtle facial dysmorphology. The vast majority of SMS cases have been
identified in the last 5 years as a result of improved cytogenetic
techniques and the availability of a FISH probe specific for SMS.

The following information is provided at the bottom of all messages sent through the list for easy reference in the future.

Post message: sms-list@yahoogroups.com
Subscribe: sms-list-subscribe@yahoogroups.com
Unsubscribe: sms-list-unsubscribe@yahoogroups.com
List owner: sms-list-owner@yahoogroups.com

List Owner
Steve Thomas
Father of a Child with SMS