1. SMITH-MAGENIS SYNDROME : Contact A Family - For Families With Disabled Children: A definition of smithmagenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. http://www.cafamily.org.uk/Direct/s33.html

printer friendly SMITH-MAGENIS SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Smith-Magenis syndrome (SMS) is a rare condition that is associated with developmental delay, learning difficulties, behavioural difficulties and a disturbed sleep pattern. SMS was first described by Ann Smith and colleagues in 1982. About 1 in 25,000 children are born with this condition, and it is probably under diagnosed. It is caused by a small deletion (microdeletion) on chromosome 17 (17p 11.2), which can be detected cytogenetically and/or by a special diagnostic test called Fluorescent in situ hybridisation (FISH) analysis. Most children with SMS have developmental delay and moderate to severe learning difficulties. In infancy low muscle tone, feeding difficulties, failure to thrive and frequent ear infections are common. Speech delay tends to be more pronounced than motor delay, and language comprehension is more impaired than expression. The most distinctive features of SMS are the behavioural problems. These include self-injurious behaviours such as hand biting, self-pinching or scratching, picking at sores, hitting the head or body, and tearing or picking fingernails or the skin around the nails. Some affected patients also demonstrate 'self-hugging' and 'lick and flip' (licking their fingers and rapidly flicking the pages of a book) behaviours. Other behavioural problems include aggression, frequent temper tantrums, hyperactivity, restlessness and distractibility, and severe sleep disturbance, including difficulties falling asleep, shortened sleep cycles, frequent and prolonged night waking and early morning waking. These abnormalities and a phase shift of the circadian rhythm of melatonin are suggestive of an underlying biological clock problem in the syndrome. Autistic-type behaviours such as resistance to change, repetitive questioning, and preoccupations with particular topics are also common.

2. Smith-Magenis Syndrome smithmagenis syndrome information, links to national and international support groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/smith-ma.html

Smith-Magenis Syndrome (SMS) (PRISMS) P.O. Box 741914, Dallas, TX 75374-1914 Phone: 972.231.0035, Fax: 413.826.6539 Web site: www.prisms.org E-mail: info@prisms.org Smith-Magenis Syndrome Contact Group , United Kingdom (U.K.) 1 Poppyfields Chester-le-Street Co Durham DH2 2NA England UK Phone: 0191.388.8868 E-mail: joule@ntlworld.com SIRIUS German Smith Magenis Syndrome Group) Also See: Smith Magenis Syndrome , GeneReviews Smith Magenis Syndrome , OMIM (Online Mendelian Inheritance in Man) Le Syndrome de Smith Magenis , ASM 17 Association Smith-Magenis (France) Smith Magenis Syndrome Research , Baylor College of Medicine Smith Magenis Syndrome Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome , National Institutes of Health Smith Magenis , Contact a Family, United Kingdom Smith-Magenis Syndrome , Special Child: Disorder Zone Smith Magenis Karyotype , University of Wisconsin - Madison, Waisman Center Cytogenetics Lab Cytogenetic finding: 46,XX,del(17)(p11.2p11.2)

3. :: PRISMS - Smith-Magenis Syndrome Support Group Details about the international support group organization and its mission as well as the condition. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations. http://www.prisms.org

@import url(/scripts/style.css); Home What Is SMS? About Us Family Support Living With SMS ... Contact Us Welcome to the PRISMS web site! PRISMS is dedicated to providing information and support to families of persons with Smith-Magenis Syndrome (SMS) and fostering partnerships with professionals to increase awareness and understanding of SMS. What's New Help us raise awareness and money by selling 2006 Entertainment Books. Coupons can be used now and are good until Nov. 2006. For more information, click here SMS Awareness Wristbands are now available! These silicone bands are a dark "hi-viz" pink and were very popular at the Cincinnati PRISMS conference. We have both adult and youth sizes. Please click here for a picture, order form and FAQs*. We now have a new streaming video page! We have several videos including the 2 videos shown at our recent Cincinnati conference. To access our new streaming video page, click here The next PRISMS conference will be held at the Hyatt Regency , Reston, VA, May 10 - May 13, 2007. Please save the date!

4. BCM - Smith-Magenis Syndrome Research What is SMS? information regarding smithmagenis syndrome. What is SMS? What are the features of SMS? http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. PRISMS PRISMS (Parents and Researchers Interested in smithmagenis syndrome) is a nonprofit organization dedicated to providing information and support to families http://www.smithmagenis.org/

This website has moved to http://www.prisms.org

6. PRISMS PRISMS (Parents and Researchers Interested in smithmagenis syndrome) is a nonprofit organization dedicated to providing information and support to http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Special Child: Disorder Zone Archives - Smith-Magenis Syndrome smithmagenis syndrome (SMS) is a distinct and clinically recognizable genetic disorder characterized by a specific pattern of physical, behavioral, http://www.specialchild.com/archives/dz-027.html

Disorder Zone Archives Smith-Magenis Syndrome Ariel Bellet Introduction Smith-Magenis syndrome (SMS) is a distinct and clinically recognizable genetic disorder characterized by a specific pattern of physical, behavioral, and developmental features. SMS, which was first described in the early 1980's by Ann C.M. Smith, MA (a genetic counselor) and Ellen Magenis, MD (a cutogeneticist), is the result of a deletion of chromosome 17 (17p11.2). The chromosomal deletion occurs from a spontaneous genetic change (mutation) that happens for unknown reasons, therefore, it is not a familial disorder. SMS is considered a rare disorder and is estimated to occur in 1 out of every 25,000 live births. Currently there are over 100 cases reported, however, it is believed that SMS is widely underdiagnosed because clinical features may be subtle. It is expected that with increased awareness, the number of those identified as having SMS will increase. Features and Characteristics There are many characteristics associated with SMS. Not every individual has all the characteristics, however, the following is a list of traits that have been reported:

8. Smith-Magenis Syndrome smithmagenis syndrome information, links to national and international support groups, clinics with genetic counselors and geneticists http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. BCM - Smith-Magenis Syndrome Research information regarding smithmagenis syndrome. What is SMS? What are the features of SMS? Laboratory Research current research efforts being performed http://imgen.bcm.tmc.edu/molgen/lupski/sms/Index-SMS.htm

For information regarding the Flood (click on the link) to see the full story in Nature What is SMS? ...information regarding Smith-Magenis Syndrome. What is SMS? What are the features of SMS? Laboratory Research ...current research efforts being performed in the laboratory. Clinical Research ...performed at the General Clinical Research Center at Texas Children's Hospital by James R. Lupski, M.D., Ph.D. and Lorraine Potocki, M.D. What tests are performed? ...testing performed and what is involved. What does the study pay for? ...expenses associated with the study. ...James R. Lupski, M.D., Ph.D., Lorraine Potocki, M.D., Pawel Stankiewicz, M.D., Ph.D., Katherina Walz, Ph.D., Jiong Yan, M.D., Betty Moseley-Fernandini Publications ...List of publications from the "Lupski Lab" For More Information ...call or write. Other Related WWW Pages of Interest PRISMS NORDS PubMed Author: Betty Moseley-Fernandini bmoseley@bcm.tmc.edu

10. SMITH-MAGENIS SYNDROME REPORT OF TWO CASES AND REVIEW OF THE smithmagenis syndrome REPORT OF TWO CASES AND REVIEW OF THE LITERATURE. AbdelKarim A. Al-Qudah, MD(ABCN); Mohammed S. El-Khateeb, PhD; http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. SMS Research Circadian rhythm abnormalities of melatonin in smithmagenis syndrome. J. Med. Genes in a refined smith-magenis syndrome critical deletion interval on http://imgen.bcm.tmc.edu/molgen/lupski/projects_sms.html

SMS Research Another major focus of the laboratory is the molecular analysis of Smith-Magenis syndrome (SMS) which represents one of the most frequently observed human microdeletion syndromes. SMS is a multiple congenital anomalies, mental retardation syndrome recognized by certain physical and behavioral features and associated with a deletion of band p11.2 of chromosome 17 ( OMIM #182290 Chen et al. 1997 ). The fact that de novo junction fragments are detected in patients with either (dup)17p11.2 or del(17)p11.2 provides supportive evidence for a reciprocoal recombination mechanism in these chromosomal disordersa story similar to that of CMT1A and HNPP. In conjunction with our clinical study of SMS through the General Clinical Research Center at the Texas Children's Hospital, our molecular research also investigates possible phenotype/genotype correlation in SMS. Recent funding through a Program Project Grant will also allow investigation of microdeletions of syntenic regions of the mouse, and may yield the first animal model for the SMS microdeletion syndrome. Please see our website dedicated to

12. SMITH-MAGENIS SYNDROME Contact A Family - For Families With A definition of smithmagenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. SMITH-MAGENIS SYNDROME: REPORT OF TWO CASES AND REVIEW OF THE LITERATURE:14(5) In all patients of smithmagenis syndrome reported, the most common clinical features Molecular analysis of the smith-magenis syndrome a possible http://www.kfshrc.edu.sa/annals/145/93137.html

September 1994 SMITH-MAGENIS SYNDROME: REPORT OF TWO CASES AND REVIEW OF THE LITERATURE AbdelKarim A. Al-Qudah, MD(ABCN); Mohammed S. El-Khateeb, PhD; Walid Abu-Hamour, MD; Najwa Khoury Bulos, MD, FAAP From the Departments of Pediatrics (Drs. Al-Qudah, Abu-Hamour and Bulos) and Cytogenetic Lab (Dr. El-Khateeb), Faculty of Medicine, University of Jordan, Amman. Address reprint requests and correspondence to Dr. Al-Qudah: Assistant Professor of Pediatric Neurology, Department of Pediatrics, P.O. Box 13407, Jordan University, Amman Jordan. Accepted for publication 30 January 1994. Since its first description in 1986, over 50 patients of Smith-Magenis syndrome (SMS) have been reported.1-3 Smith et al. reported the first two cases. In 1986 they expanded their report to include nine patients and described a clinically recognizable phenotype.4 Subsequently, more cases of this syndrome have been reported, suggesting that SMS may be more common than cri-du-chat syndrome.1,5-7 Consanguinity has not been reported in this syndrome. We report two cases of SMS to consanguineous parents and review of the literature on this syndrome. Case Reports Case A: AT is a seven-year-old Jordanian male, the first child born to a G1, P1, 18-year-old mother. He was the result of an uneventful 34 week pregnancy and his Apgar scores were 8 and 9 at one and five minutes respectively. His birth weight was 1500 g, head circumference was 27 cm and length was 42 cm. His postnatal course was complicated by jaundice (bilirubin reached 12.2 mg/dL) and treated by phototherapy. He sat at the age of 10 months, walked at two years of age and spoke late. He started to speak phrases of two words at the age of six years. The parents are healthy cousins. They have two other normal sons and one daughter. Otherwise, the family history was unremarkable, particularly for microcornea. He had bilateral inguinal herniotomy at the age of two months, sinusitis at the age of four years. He has been followed as a case of global developmental delay, hyperactivity and "small cornea" in the general pediatric clinic.

14. Smith Magenis Syndrome smithmagenis syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. GeneReviews: Smith-Magenis Syndrome Your browser does not support HTML frames so you must view smithmagenis syndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/sms&id=8888888&key=r5uHMS56EHeaU

Your browser does not support HTML frames so you must view Smith-Magenis Syndrome in a slightly less readable form. Please follow this link to do so.

16. Smith-Magenis Syndrome / Family Village Library smithmagenis syndrome http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Behavioral Characterization Of Mouse Models For Smith-Magenis Behavioral characterization of mouse models for Smith Magenis syndrome and dup(17)(p11.2p11.2) Katherina Walz1 , Corinne Spencer1 http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. OMIM - SMITH-MAGENIS SYNDROME; SMS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182290

19. Structure And Evolution Of The Smith-Magenis Syndrome Repeat Gene Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Entrez PubMed smithmagenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

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