1. Genetics Research: Smith-Magenis Syndrome A definition of smith-magenis syndrome, the symptoms, incidence and currant research efforts.Category Health Conditions and Diseases smith-magenis syndrome......smithmagenis syndrome. Principal Click picture for legend and largerversion, Seven year-old girl with smith-magenis syndrome. Selected http://www.bcm.tmc.edu/neurol/research/genes/genes10.html

Smith-Magenis Syndrome Principal Investigator: Pragna I. Patel, Ph.D. Multiple congenital anomalies/mental retardation syndrome Caused by a deletion involving chromosome 17 band p11.2 Incidence: ~ 1 in 25,000 Symptoms include: brachycephaly, flat midface, protending jaw, hoarse deep voice, sleep disorders, compulsive tendency to manipulate nails and to insert foreign objects into bodily orifices Our analysis of 62 patients has delineated a common interval in 17p11.2 deleted in all patients within which four genes encoding snU3, FLI, MFAP4 and cSHMT have been mapped Current Research Efforts include: narrow down the "critical region" construct a contig of genomic clones for this region identify candidate genes identify additional patients with smaller deletions Click picture for legend and larger version Seven year-old girl with Smith-Magenis syndrome Selected References: Yang, S.P., Bidichandani, S.I., Figuera, L.E., Juyal, R.C., Saxon, P.J., Baldini, A., and Patel, P.I. Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 170 paracentric inversion: implications for carriers of paracentric inversions. Am.J. Hum. Genet., (In press), 1997. Juyal, R.C., Kuwano, A., Kondo, I., Zara, F., Baldini, A., and Patel, P.I. Mosaicism for del (17)(p11.2p11.2) underlyig the Smith-Magenis syndrome. Am. J. Med. Genet., 66:193-196, 1996.

2. PRISMS - HOME PAGE Details about the organization and its mission as well as the disease. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations. http://www.smithmagenis.org

Parents and Researchers Interested in Smith-Magenis Syndrome INTRODUCTION OVERVIEW IN-DEPTH REVIEW PARENTS' CORNER MEET SOME PEOPLE WITH SMS EDUCATIONAL CONSIDERATIONS RESEARCH ABOUT PRISMS NEWS AND EVENTS PRISMS BROCHURE ... INFORMATION FROM THE 2000 CONFERENCE PARENT-TO-PARENT MEMBERSHIP DONATIONS FUNDRAISING RESOURCES OF INTEREST O THER SMS SITES AND SUPPORT GROUPS PRISMS 76 South New Boston Rd Francestown, NH Phone: 603-547-8384 HELP RAISE MONEY FOR PRISMS! Hosted by Web Design by Brenda Finucane You are visitor number Last updated March 2

3. Smith-Magenis Syndrome Image that's a link to Genetics Education Center Support Page SmithMagenisSyndrome (SMS). SIRIUS (German Smith Magenis Syndrome Group). Also See http://www.kumc.edu/gec/support/smith-ma.html

Smith-Magenis Syndrome (SMS) 76 S. New Boston Francestown, NH 03043 Phone:(603) 547-8384 E-mail: cbessette@monad.net Web Site: www.smithmagenis.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 , OMIM (Online Mendelian Inheritance in Man) SMS email listserv (U.S.) 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 Karyotype , Queens University, Canada Smith Magenis Syndrome , GeneReviews To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments

4. The Contact A Family Directory - SMITH-MAGENIS SYNDROME 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 more about us in your area conditions information ... how you can help search this site Smith-Magenis syndrome (SMS) is a rare condition that is associated with developmental delay, learning difficulties, behavioural problems and a disturbed sleeping pattern. Ann Smith and colleagues first described this condition in 1982. About 1 in 25,000 children are born with this condition and it is probably underdiagnosed. It is caused by a small deletion (microdeletion) of the short arm of one member of the 17th pair of chromosomes (17p11.2 microdeletion). This deletion can be detected by special diagnostic test called Fluorescent in situ hybridisation (FISH) analysis. Most children with SMS have developmental delay and moderate to severe learning difficulties. Speech is frequently delayed. The most characteristic features of this syndrome are the behavioural problems. These include several forms of self-injurious behaviour such as pulling out fingernails and toenails, wrist biting, hair pulling, skin picking and head banging. There is also a tendency to insert objects into bodily orifices such as the nose and ears. 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, short attention span and repetitive behaviour. Patients with SMS also have a very disturbed sleeping pattern. They appear to require very little sleep and may have an inverted sleep rhythm, staying awake at night and often sleeping during the daytime.

5. Special Child: Disorder Zone Archives - Smith-Magenis Syndrome smithmagenis syndrome Difficult, but necessary, medical procedures were evenmore nightmarish when undertaken in a child with smith-magenis syndrome. 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:

6. Page D'accueil Du Site Smith Magenis Clinical case reports with an analysis of the disease. Includes references. smithmagenis syndrome REPORT OF TWO CASES AND REVIEW OF THE LITERATURE http://www.multimania.com/asm17france

C'est une maladie chromosomique associant une dysmorphie , des troubles du comportement et un retard mental. Qu'est ce qu'un syndrome ? LE SYNDROME DE SMITH MAGENIS Perte d'un fragment de chromosome Anomalie de la forme d'une partie du corps Description clinique Gros plan sur le syndrome Observation du comportement Smith Magenis ... Le club

7. Faculty: Patel, P.I. Diseases under investigation are CharcotMarie-Tooth disease, smith-magenis syndromedue to del(17)(p11.2), Lesch-Nyhan syndrome, and Friedreich ataxia. http://www.bcm.tmc.edu/neurol/faculty/Patel.html

Professor Ph.D.(1982) West Virginia University Phone: 1-713-798-5823 (Office) 1-713-798-6504 (Lab) Fax: 1-713-798-8526 email: pragna@bcm.tmc.edu Pragna I. Patel, Ph.D. Research Interests: Molecular genetics of inherited disorders, particularly those involving the nervous system. Gene identification, gene regulation, DNA-based diagnosis and therapeutic regimens. Diseases under investigation are Charcot-Marie-Tooth disease, Smith-Magenis syndrome due to del(17)(p11.2), Lesch-Nyhan syndrome, and Friedreich ataxia. Currently recruiting individuals for a research study of hypodontia (missing teeth). Reclutando pacientes para estudio de investigacion en hipodoncia (falta de dientes). Selected Publications: Rincon-Limas, D.E., Amaya-Manzanares, F., Nino-Rosales, M.L., Yu, Y-J., Yang, T.P., and Patel, P.I. (1995) Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human HPRT gene. Mol. Cell. Biol. 15:6561-6571. Juyal, P.C., Figuera, L.E., Hauge, X., Elsea, S.H., Lupski, J.R., Greenberg, F., Baldini, A., and Patel, P.I. (1996) Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

8. Special Child: Disorder Zone Archives Willi Syndrome Rett Syndrome RubinsteinTaybi Syndrome Sanfilippo Syndrome Septo-OpticDysplasia Smith-Lemli-Opitz Syndrome smith-magenis syndrome Spina Bifida http://www.specialchild.com/disorder.html

Disorder Zone Archives Angelman Syndrome Apert Syndrome Arthrogryposis Multiplex Congenita Asperger Syndrome ... Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges By using Special Child and related services, you agree to abide by the terms and conditions

9. SMITH-MAGENIS SYNDROME: REPORT OF TWO CASES AND REVIEW OF THE LITERATURE:14(5) September 1994. smithmagenis syndrome REPORT OF TWO CASES AND REVIEW OF THELITERATURE. FIGURE 1. Case A Seven-year-old boy with smith-magenis syndrome. 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.

10. SMITH-MAGENIS SYNDROME: REPORT OF TWO CASES AND REVIEW OF THE LITERATURE:14(5):A September 1994. smithmagenis syndrome REPORT OF TWO CASES AND REVIEWOF THE LITERATURE. AbdelKarim A. Al-Qudah, MD(ABCN); Mohammed http://www.kfshrc.edu.sa/annals/145/93137ab.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 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.

11. About Smith-Magenis Syndrome Similar pages Open Directory Health Conditions and Diseases Genetic 84). Baylor College of Medicine - A definition of smith-magenis syndrome,the symptoms, incidence and currant research efforts. The http://www.nhgri.nih.gov/DIR/MGB/SMS97/about_sms.html

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, referred to as deletion 17p11.2. 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 cutogeneticist. Although the exact incidence is not known, SMS is rare and is estimated to occur in 1 of every 25,000 births. SMS is underdiagnosed but with improved molecular cytogenetic techniques and increased professional awareness of SMS, the number of personms identified grows every year. 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.

12. The Family Village / Library / Smith-Magenis Syndrome Library S T. smith-magenis syndrome. Learn More About It. Smith-MagenisSyndrome From the Online Mendelian Inheritance of Man (OMIM). http://www.familyvillage.wisc.edu/lib_sms.htm

Smith-Magenis Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Smith-Magenis Syndrome" Who to Contact PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) 11875 Fawn Ridge Lane Reston, VA 22094 E-mail: acmsmith@nhgri.nih.gov Website: http://www.kumc.edu/gec/support/smith-ma.html Where to Go to Chat with Others Smith-Magenis Syndrome Mailing List The SMS Mailing list is designed to promote the exhange 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. To join, send an e-mail message to this address: sms-list-subscribe@eGroups.com Questions should be directed to the listowner at this address: sms-list-owner@eGroups.com Web: http://www.egroups.com/list/sms-list/info.html Learn More About It Smith-Magenis Syndrome From the Online Mendelian Inheritance of Man (OMIM) Smith-Magenis Syndrome: Genetic Research From the Department of Neurology at Baylor College of Medicine Smith-Magenis Syndrome: Report of Two Cases and Review of the Literature From AbdelKarim A. Al-Qudah, MD(ABCN); Mohammed S. El-Khateeb, PhD; Walid Abu-Hamour, MD; Najwa Khoury Bulos, MD, FAAP

13. HealthlinkUSA Smith-magenis Syndrome Links Try it, you'll love it! AhHa. Click here for page 1 of smith-magenis syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here. http://www.healthlinkusa.com/287ent.htm

14. Smith-magenis Syndrome; Treatment, Prevention, Cure smithmagenis syndrome Search here for information which may include treatment,diagnosis, prevention, support groups, email lists, messageboards, personal http://www.healthlinkusa.com/content/287.html

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, March 30, 2003 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Monday March 31, 2003 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

15. Smith-Magenis Syndrome Research Another major focus of the laboratory is the molecular analysis of SmithMagenissyndrome (SMS) which represents one of the most frequently observed human 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 (link to Betty's Page), 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

16. BCM - Smith-Magenis Syndrome Research the full story in Nature. What is SMS? information regarding SmithMagenisSyndrome. What is SMS? What are the features of SMS? 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

17. Smith-Magenis Syndrome Aussies smithmagenis syndrome Family Day. On the 20th April 2002, 12 familiesmet at the Melbourne Museum - their common bond was that one http://www.gsnv.org.au/SMS/

Smith-Magenis Syndrome Family Day On the 20th April 2002, 12 families met at the Melbourne Museum - their common bond was that one of their family members had Smith Magenis Syndrome (SMS). Families had travelled from all over Victoria and several from NSW. The day was coordinated by the GSNV, in collaboration with Dr George McGillervray, Genetics Fellow, Marg Sahhar, Senior Social Worker both from Genetic Health Services Victoria and Craig and Katrina Simpson, parents of a child with SMS. This day was momentous for a number of reasons: It was a day set up just for the families. It had no clinical focus at all, however there was a geneticist and a social worker present on the day. The day was highly supported by the Melbourne Museum who provided the meeting room, complimentary passes and staff to conduct a guided tour of the museum with kids, siblings and others leaving parents to discuss the real issues whilst knowing their children were being entertained. The Museum was chosen because it provided a neutral space and one that was full of activities. Points and issues raised during the meeting: Use Professionals BI S team (behavioural) Centrelink Financial Benefits Siblings - Centre for Adolescent Health group 9345 5522 Yahoo Actions to occur: List of contact families to be produced and distributed GSNV to contact genetic counsellors nationally USA List serv Webpage connected to GSNV site Annual get together (keeping in mind funding, location and respite care for kids)

18. Smith Magenis Syndrome smithmagenis syndrome (SMS). smith-magenis syndrome Follow these linksto learn more about smith-magenis syndrome Parents Researchers http://www.slh.wisc.edu/cytogenetics/CaseOfTheMonth/SmithMagenis.html

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: -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 See Also: Karyotype showing deletion 17p11.2

19. 1st National Conference On Smith-Magenis Syndrome (SMS) - Office Of Rare Disease 1st National Conference on smithmagenis syndrome (SMS) Final ProgressReport to Office of Rare Diseases. Project Director Ann CM http://rarediseases.info.nih.gov/news-reports/workshops/smith970314.html

National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases 1st National Conference on Smith-Magenis Syndrome (SMS) Table of Contents Final Progress Report to Office of Rare Diseases Appendix B - Reuters Press Release Appendix C - Speaker Highlights Invited Speakers ... Agenda 1st National Conference on Smith-Magenis Syndrome (SMS) Final Progress Report to Office of Rare Diseases Project Director: Ann C. M. Smith, M.A., C.G.C., Genetic Counselor and Chair, Professional Advisory Committee, PRISMS ; Medical Genetics Branch, National Human Genome Research Institute, NIH Project Summary The major goal of the project was to plan and conduct the First National Conference on Smith-Magenis Syndrome (SMS) for parents, professionals, and researchers interested in SMS. The conference was held on March 14-15, 1997 at the Holiday Inn, Bethesda. Announcements about the conference included: SMS conference brochure mailed to 1,500 educators and professionals in MARHGN region. Conference Information Packet mailed to all PRISMS members (N=120).

20. Health Library - Smith-Magenis Syndrome smithmagenis syndrome. Founded 1992.Parent-to-parent program offering support,advocacy and education for families affected by smith-magenis syndrome. http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29sms

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