1. Genetics Research: Smith-Magenis Syndrome A definition of smithmagenis syndrome, the symptoms, incidence and currant research efforts. 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 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.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 P.O. Box 741914 Dallas, TX 75374-1914 USA Phone: Fax: PRISMS DVD NOW AVAILABLE! Click here for details Hosted by Web Design by Brenda Finucane You are visitor number Last updated May 11

3. Smith-Magenis Syndrome smithmagenis syndrome (SMS). Also See Smith Magenis Syndrome, GeneReviews; Smith Magenis Syndrome, OMIM (Online Mendelian Inheritance in Man); 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)

4. 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 more about us in your area conditions information ... how you can help search this site 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.

5. Special Child: Disorder Zone Archives - Smith-Magenis Syndrome smithmagenis syndrome. Difficult, but necessary, medical procedures were even more 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. NORD - National Organization For Rare Disorders, Inc. General Discussion. smithmagenis syndrome is a rare chromosomal disorder characterized Many individuals with smith-magenis syndrome also experience sleep disturbances http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith Magenis

7. Www.ddhealthinfo.org - Medical Care Information smithmagenis syndrome is a distinct and clinically recognizable contiguous gene syndrome characterized by and developmental features. smith-magenis syndrome (SMS) is caused by http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5196

8. PRISMS - FEATURES OF SMS WHAT IS smithmagenis syndrome? THE SYNDROME. smith-magenis syndrome (SMS) is associated with a small, missing section (called a deletion) of chromosome 17. http://www.smithmagenis.org/overview.html

WHAT IS SMITH-MAGENIS SYNDROME? THE SYNDROME A syndrome is a recognizable pattern of physical, behavioral, and developmental features which occur together in the same person due to a single, underlying cause. Smith-Magenis syndrome (SMS) is associated with a small, missing section (called a deletion) of chromosome 17. The first group of children with this deletion was described in the 1980's by Ann C.M. Smith, a genetic counselor, and Ellen Magenis, a physician and chromosome expert. Most people with the diagnosis have been identified since 1995 as a result of improved laboratory techniques which allow the accurate detection of this chromosomal deletion. Although the exact incidence is not known, it is estimated that SMS occurs in 1 out of 25,000 births. SMS is under-diagnosed, but as awareness of it increases, the number of people identified grows every year. CHARACTERISTICS OF SMS A variety of unusual physical and behavioral characteristics have been found in people with SMS. An individual with SMS may have just a few or many of the features listed below:

9. Smith-Magenis Syndrome Information Diseases Database smithmagenis syndrome Chromosome 17p deletion syndrome, Disease Database Information Sponsors Contact Previous Page. smith-magenis syndrome Information. smith-magenis syndrome Definition(s) via UMLS ..Code translations and terms via UMLS http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=31737

10. 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 THE LITERATURE. 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.

11. GeneReviews: Smith-Magenis Syndrome http://www.geneclinics.org/profiles/sms&id=8888888&key=r5uHMS56EHeaU

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12. Smith-Magenis Syndrome / Family Village Library Library S T. smith-magenis syndrome. Learn More About It. What is smith-magenis syndrome? From the Prisms web site. What is SMS? 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 Google for "Smith-Magenis Syndrome" Who to Contact P.O. Box 741914 Dallas, TX 75374-1914 Phone: 972.231.0035 Fax: 413.826.6539 E-mail: info@prisms.org Website: http://www.prisms.org 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. 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. Learn More About It What is Smith-Magenis Syndrome? From the Prisms web site. What is SMS?

13. 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

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14. Clinical Trial: Natural History Study Of Smith-Magenis Syndrome Natural History Study of smithmagenis syndrome. This study is currently recruiting patients. Condition. Chromosome Abnormalities Smith Magenis Syndrome. http://www.clinicaltrials.gov/ct/gui/show/NCT00013559?order=2

15. Smith-Magenis Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders smithmagenis syndrome smith-magenis syndrome. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/genetic-disorders/smith-magenis-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > smith-magenis syndrome Smith-Magenis Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Health News Web Directory: Related Topics: Rare Disorders Health News: Search millions of published articles for news on Smith-Magenis Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Baylor College of Medicine A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. NORD: Smith Magenis Syndrome Offers the synonyms, a general discussion and further resources. PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) 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. The CaF Directory A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom.

16. Risperidone Treatment In Smith-Magenis Syndrome Mosaicism for deletion 17p11.2 in 5 boy with the smithmagenis syndrome. The spasmodic upper body squeeze A characteristic behavior in SmithMagenis syndrome. http://www.priory.com/psych/sms.htm

Efficacy of Risperidone Treatment in Smith-Magenis Syndrome (del 17 pll.2) Helmut Niederhofer Regional Hospital of Bolzano Dep. of Pediatrics Via L.-Boehler, 5 39100 Bolzano ITALY Tel.: +39 0471 466666 Fax: +39 0471 46609 E-Mail: helmut.niederhofer@uibk.ac.at ABSTRACT: Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 pll.2. Although the physical and molecular genetic features of SMS are increasingly well understood, work is more limited on SMS's behavioral phenotype, which includes self-injury, tantrums, aggression, attention deficit, and sleep disturbance. This case-report describes the lowering of the aggression level of a 13 year old individual with SMS. KEY WORDS: SMS, chromosome del 17 pll.2; behavioural phenotype; mental retardation; Risperidone INTRODUCTION: The vast majority of persons with SMS have been identified in the last 5 years as a result of improved cytogenetic techniques for high-resolution banding. While the number of reported cases remains small, the estimated prevalence of SMS is 1125,000 births (Green et al., 1991). Virtually all cases of SMS have been confirmed cytogenetically, with detectable deletions of 17p11.2 ranging from 2 to 9 megabases. Moderate quality and 450-550 band resolution is generally adequate for detection of the deletions of 17p11 (Behjati et al.. 1997); however, clinically suspected cases in which the deletion is not cytogenetically detectable warrant fluorescence

17. BCM - Smith-Magenis Syndrome Research the full story in Nature. What is SMS? information regarding smithmagenis syndrome. 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

18. Untitled Document What is smithmagenis syndrome? smith-magenis syndrome (SMS) is associated with a missing section (called a deletion) of chromosome 17. http://imgen.bcm.tmc.edu/molgen/lupski/sms/What is SMS.htm

What is Smith-Magenis Syndrome? A syndrome is a specific pattern of physical, behavioral, and developmental features which occur together in a person due to a single underlying cause. Smith-Magenis syndrome (SMS) is associated with a missing section (called a deletion) of chromosome 17. The first group of children with this deletion was described in the 1980's by Ann Smith, a genetic counselor, and Dr. Ellen Magenis, a physician and chromosome expert. A variety of unusual physical and behavioral characteristics have been found in people with SMS. What are the Features of SMS? An individual with SMS may have just a few or many of the features outlined below. Some individuals with SMS may never show significant behavior problems, although some degree of self injury and sleep disturbance probably occurs in most. Despite their difficult behaviors, many children and adults with SMS are very appealing and affectionate, and have much untapped potential. Clinical Features developmental delay learning disability mental retardation low muscle tone in infancy feeding problems in infancy short stature flat facial features prominent jaw in older children and adults abnormalities of the palate, with our without cleft lip

19. OMIM - SMITH-MAGENIS SYNDROME; SMS http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182290

20. HealthlinkUSA Smith-magenis Syndrome Links You can find smithmagenis syndrome right now at Info.com. Click here for page 1 of smith-magenis syndrome information from the HealthlinkUSA directory. http://www.healthlinkusa.com/287.html

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