41. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Sites. Baylor College of Medicine A definition of smithmagenis syndrome,the symptoms, incidence and currant research efforts. The http://www.1uphealth.com/links/genetic-disorders-smith-magenis-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Smith-Magenis Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Health: Consumer Support Groups: Facial Differences Sites Baylor College of Medicine A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. The CaF Directory A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. NORD - Smith Magenis Syndrome Offers the synonyms, a general discussion and further resources. Parents and Researchers Interested in Smith-Magenis Syndrome) 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. Help build the largest human-edited directory on the web.

42. CSH/Sjældne Handicap/Korte/Smith-Magenis Syndrom tlf. 3391 4020. Vidensressourcer På dette link kan du få adgang tilGeneReviews artiklen smithmagenis syndrome. Vælg 'GeneReviews http://www.csh.dk/sjaeldne_handicap/korte/SmittMagenis.html

Smith-Magenis syndrom Smith-Magenis syndrom er en kromosomsygdom og kan kendes på et karakteristisk udseende, udviklingshæmning og en karakteristisk adfærd. Syndromet er først beskrevet i 1980érne af Anne Smith og Ellen Magenis. Diagnosen kan stilles ved en kromosomundersøgelse med påvisning af en såkaldt mikrodeletion (dvs lille manglende kromosomstykke) af kromosom 17. Der skal oftest anvendes en specialteknik ved kromosomundersøgelsen. Afvigelsen er oftest nyopstået, i sjældne tilfælde ses familiær forekomst. Udseendet er karakteriseret ved et rundt hoved med flad nakke, stor pande, evt. sammenvoksede øjenbryn, skrå øjenspalter, bred næseryg, kort næse. Munden kan være karakteristisk med teltformet overlæbe. Udviklingshæmning af alle grader ses, men de fleste personer er moderat til lettere retarderede. Der kan ses hørenedsættelse og evt hjerte- og nyremisdannelse. Der ses nedsat højdevækst. Adfærdsforstyrrelser er almindelige, især søvnforstyrrelser og selvdestruktiv adfærd ses. Som spæde kan børnene være slappe og med dårlig trivsel, senere ses hyperaktivitet og manglende impulskontrol samt selv-beskadigende adfærd (f. eks. hoveddunken, selvbidning, tænderskæren). Søvnforstyrrelser i form af hyppig opvågning og sen indsovning er almindelige. Søvnproblemer kan evt. behandles medikamentelt. Der er ingen kurativ behandling, men socialpædagogisk /psykologisk støtte kan afbøde adfærdsproblemer.

43. Searchalot Directory For Smith-Magenis Syndrome Sponsored Links. Top Health Conditions and Diseases Genetic Disorders SmithMagenisSyndrome (4). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Smit

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Smith-Magenis Syndrome Related Web Sites The CaF Directory - A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. NORD - Smith Magenis Syndrome - Offers the synonyms, a general discussion and further resources. Parents and Researchers Interested in Smith-Magenis Syndrome) - 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. Baylor College of Medicine - A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts.

44. Sms smithmagenis syndrome is an extremely rare congenital disorder in which chromosomalmaterial is absent from a certain portion of the short arm (p) of http://freespace.virgin.net/cna.sthelens/medical_cons/s/sms.htm

Brief Description Smith-Magenis Syndrome is an extremely rare congenital disorder in which chromosomal material is absent from a certain portion of the short arm (p) of chromosome 17 (interstitial deletion 17p11.2) due to a spontaneous (de novo) genetic change early in embryonic development. Affected individuals may have a variety of associated symptoms and physical abnormalities including characteristic malformations of the head and facial area; abnormalities of the fingers and hands; speech delays and an unusually deep, hoarse voice; hearing loss; and/or moderate to severe mental retardation. In addition, many affected children may demonstrate self-destructive behavior. Local Contacts/ Information David Parkinson 5 Tarn Grove, Moss Bank St. Helens, Merseyside Tel: 01744 750673 Email: d.parkinson@ic24.net Regional Contacts/ Information North West England David Parlinson 5 Tarn Grove, Moss Bank

45. Le Syndrome De Smith-Magenis Translate this page AF Leversha MA, Voullaire LE Rogers JG Five cases demonstrating the distinctivebehavioral features of chromosome deletion 17p11-2 (smith-magenis syndrome). http://orphanet.infobiogen.fr/data/patho/FR/fr-SMS.html

Le syndrome de Smith-Magenis Auteur : Docteur Marie-Odile Livet, Docteur Anne Moncla Editeur : Professeur Didier Lacombe Incidence Elle est de 1/25 000 naissances vivantes. Description clinique Le syndrome dysmorphique Il comprend : une dysmorphie cranio-faciale une brachydactylie constante. Le retard de langage est constant Le comportement Des troubles du comportement Des manifestations d'"auto-serrement" L’examen neurologique Des pieds plats valgus Les examens neuro-radiologiques Les troubles ophtalmologiques Des malformations des voies urinaires peuvent s'observer ainsi que des cardiopathies diverses. Prise en charge de novo actuellement retenue. Colley A.F. Leversha M.A., Voullaire L. E. Rogers J. G. Five cases demonstrating the distinctive behavioral features of chromosome deletion 17p11-2 (Smith-Magenis syndrome). J. Paediatr. Child Health 1990, 26 : 17-21. De Leersnyder H, de Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C, Munnich A. Beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.J Med Genet. 2001;38:586-90. De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr. 2001;139:111-6.

46. EnableNet - Enablenet.browse.browse Dis Intellectual and Developmental smithmagenis syndrome smith-magenis syndrome Matching Resources. Records 1-1 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2380

47. Smith-Magenis Syndrome smithmagenis syndrome. From Sarah Category Behavioral Issues Date1/12/01 Time 102500 AM Remote Name 152.163.204.40. Comments. http://www.qmrp.org/_naq1/00000029.htm

48. Re Smith-Magenis Syndrome Re smithmagenis syndrome. From Category None Date 1/19/01 Time80202 AM Remote Name 205.188.193.167. Comments. I emailed a http://www.qmrp.org/_naq1/0000002b.htm

49. Food Foraging Behaviors: A Phenotypic Overlap Between Smith-Magenis And Prader-W 10. The Children’s Institute, Pittsburgh, PA. We know of 10 patientswith smithmagenis syndrome who exhibit food foraging behaviors. http://www.pwsausa.org/Scnceday/15_SD_03.htm

PWSA (USA)'s 15th Annual Scientific Day July 19, 2000, Pittsburgh, PA Food Foraging Behaviors: A Phenotypic Overlap Between Smith-Magenis And Prader-Willi Syndromes Maria A. Del Vecchio , Gretchen L. Matika , Theresa A. Grebe , Merlin G. Butler , Cynthia M. Powell , Ann CM. Smith , Cynthia Jane R. Curry , Roger E. Stevenson , Jeanne M. Hanchett , Frank Greenberg and Carolyn A. Bay 1. Division of Medical Genetics, Children’s Hospital of Pittsburgh, Pittsburgh, PA 2. Division of Medical and Molecular Genetics, Univ. of Arizona Phoenix Genetics Program, Phoenix, AZ. 3. Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospital, Kansas City, MO. 4. Division of Genetics and Metabolism, Univ. of North Carolina, Chapel Hill, NC, 5. Medical Genetics Branch, NHGRI, HIH, Bethesda, MD. 6. Georgetown Univ. Washington, DC. 7. Genetic Medicine/UCSF, Valley Children’s Hospital, Madera, CA. 8. Greenwood Genetic Ctr, Greenwood, SC. 9. University of Pittsburgh, School of Medicine, Pittsburgh, PA. 10. The Children’s Institute, Pittsburgh, PA.

50. Smith-Magenis-Syndrom - Symtpome Translate this page (aus What is smith-magenis syndrome?. Raeburn J. A. et al. The Smith-MagenisSyndrome Foundation, London 1999 und aus klinischen Standardwerken) http://www.smith-magenis.de/texte/popups/symptome.htm

Smith-Magenis-Syndrom - die häufigsten Symptome (aus: What is Smith-Magenis Syndrome? . Raeburn J. A. et al. The Smith-Magenis Syndrome Foundation, London 1999 und aus klinischen Standardwerken) Lernbehinderung, Intelligenzminderung (IQ 20-78, meist 40-54) Entwicklungsverzögerung kurze Statur unterentwickeltes (flaches) Gesicht hervortretender Unterkiefer Lippen- und/oder Gaumenspalte nach unten gebogener Mund ungewöhnlich geformte Ohren chronische Ohrenentzündungen sprachliche Verzögerung tiefe, heisere Stimme Hörschwäche Kurzsichtigkeit Netzhautablösung Schielen kleine, breite Hände; kurze Finger und Zehen Herzfehler, Herzgeräusch Nieren-, Harnleiter- und Blasenprobleme Skoliose (Verbiegung der Wirbelsäule) Muskelschwäche, ungewöhnlich dünne Unterschenkel auffälliger Gang (Schrittfolge) tiefe Sehnenreflexe schwer auslösbar verminderte Schmerzempfindlichkeit gestörtes Temperaturempfinden Schwierigkeiten beim Kauen empfindliche Kopfhaut Teils erhebliche Ein- und Durchschlafstörung, tagsüber oftmals sehr müde Verhaltensstörungen, z. B.:

51. Smith smithmagenis syndrome. Examinations PhotographsMovies Links Home Search noJava Home. http://medgen.genetics.utah.edu/photographs/pages/smith.htm

Smith-Magenis syndrome Examinations Photographs Movies Links ... noJava Home

52. 24Dr.com Reference Library - Patient Groups - Smith-Magenis Syndrome Foundation smithmagenis syndrome FOUNDATION. The smith-magenis syndrome Foundation is afamily self-help group. It has a national network with regional contacts. http://www.24dr.com/reference/contact/group/smith-magenis.htm

Search for in All of 24Dr.com Contact points Dictionary Encyclopaedia eShop Library News Medicines Information Symptoms Travel Clinic Home Register / Login Dictionary Encyclopaedia Travel clinic Drug database Library Contact points Common symptoms Illustrations Feedback SMITH-MAGENIS SYNDROME FOUNDATION Smith-Magenis Syndrome (SMS) is associated with a missing section of a chromosome giving rise to a specific pattern of physical and behavioural features. Diagnosis is usually confirmed by a specialist blood test involving high resolution chromosome analysis. A variety of unusual physical and behavioural characteristics have been found in people with SMS. People with the syndrome may have a few or many of these characteristics. The Smith-Magenis Syndrome Foundation is a family self-help group. It has a national network with regional contacts. The aims and activities of the group include the following. To act as an information clearing house on SMS. To increase awareness of the syndrome. To enable families to contact each other by telephone and letter. The group holds an AGM and local meetings.

53. Directory :: Look.com smithmagenis syndrome (4) See Also. Baylor College of Medicine A definition of Smith-Magenissyndrome, the symptoms, incidence and currant research efforts. http://www.look.com/searchroute/directorysearch.asp?p=552316

54. 369 Smith-Magenis Syndrome A Genomic Disorder With A Common Program Nr 369 smithmagenis syndrome A genomic disorder with a commonmolecular mechanism and variable clinical phenotype. L. Potocki http://www.faseb.org/genetics/ashg99/f369.htm

55. S Sleep Disorders. Smallpox. SmithLemli-Opitz Syndrome. smith-magenis syndrome. Smith-MagenisSyndrome. Sneddon Syndrome. Snoring. Social Behavior. Somatoform Disorders. http://www.mashhadkit.com/iranmedicine/diseases-list/diseases-s-t.htm

S Salivary Gland Diseases Salmonella Infections Salpingitis Samters Syndrome ... Sexually Transmitted Diseases (, Bacterial) Sezary Syndrome Sheep and Goat Diseases Shingles Shock ... Spasms, Infantile (West Syndrome) Speech Disorders Spermatic Cord Torsion Spherocytosis, Hereditary Spina Bifida ... Stickler/Marshall Syndrome (not on MeSH) Stiff-Person Syndrome Still's Disease Stomatitis, Aphthous Strabismus ... Syringomyelia T Tachycardia Taeniasis Takayasu's Arteritis Tangier Disease ... Temporomandibular Joint Dysfuntion Syndrome (Musculoskeletal Diseases) Temporomandibular Joint Disorders (Stomatognathic Diseases) Tennis Elbow Tenosynovitis Teratoma Testicular Cancer ... Tick-Borne Diseases (Bacterial .. Infections) Tick-Borne Diseases (Parasitic Diseases) Tietze's Syndrome (Costochondritis) Tinea Tinea Pedis Tinea Versicolor Tinnitus ... Tyrosinemia

56. CheatHouse.com - Smith-Magenis Syndrome - It Is Full Of Info Such As Characteris smithmagenis syndrome - It is full of info such as Characteristics, Geneitics,The Diagnosis, Early Detection, an Diagnossis and Intervention. Note! http://www.cheathouse.com/eview/10837_smith_magenis_syndrome_it_is_full_of_inf.h

Smith-Magenis Syndrome Smith-Magenis Syndrome (SMS) is a disease where there is a small deletion (missing section) of one member of their 17th pair of Chromosomes. To educate you on SMS I will tell you the Characteristics, Genetics, The Diagnosis, and about Early Detection, Diagnosis, and Interventi Smith-Magenis Syndrome - It is full of info such as Characteristics, Geneitics, The Diagnosis, Early Detection, an Diagnossis and Intervention. Note! The sentences in this essay are shuffled, making this essay unusable If you want to read the essay in it's original and proper state, click here. We use this page for our internal search engine, and it's not meant to be viewable. Diseases Home Essays [LOGIN] ... 1995-2003, Loadstone

57. CharityAmerica.com - Information Causeway PRISMS, Inc. (Parents and Researchers Interested In smithmagenis syndrome).Francestown, NH. Mission Goals. Founded in 1993, PRISMS http://www.charityamerica.com/charities/infocauseway/charityabout.cfm?CharityID=

58. UK.SearchEngine.com - Finds It Fast! smithmagenis syndrome. additional Kingdom. NORD - Smith Magenis Syndrome- Offers the synonyms, a general discussion and further resources. http://uk.searchengine.com/Top/Health/Conditions_and_Diseases/Genetic_Disorders/

Home Top Health > Smith-Magenis Syndrome ADULT CARS SHOPPING FINANCE ... The CaF Directory - A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. NORD - Smith Magenis Syndrome - Offers the synonyms, a general discussion and further resources. Parents and Researchers Interested in Smith-Magenis Syndrome) - 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. Baylor College of Medicine - A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. WEBSEARCH POPULAR SEARCHES Auction Books Car Hire Cheap Flights ... Contact Us

59. Mioti: Medical Condition Smallpox, • Smith Lemli Opitz Syndrome. • Smith Magenis Syndrome,• smithmagenis syndrome. • Smoking Addiction, • Sneddon Syndrome. http://www.mioti.com/cat/condition/results.asp?Alpha=S

60. Smith-MagenisSyndrome4202 There are no known cures or treatments for persons having smithmagenis syndrome.VIII. LATEST RESEARCH. QUIZ What is the cause of smith-magenis syndrome? http://a-s.clayton.edu/hampikian/1901H/REPORTS1999/Smith-MagenisSyndrome4202.htm

THIS IS A STUDENT REPORT AND MAY CONTAIN INACCURACIES. IF YOU WISH TO QUOTE FROM IT YOU MUST GET THE WRITTEN PREMISSION OF DR. GREG HAMPIKIAN. Greghampikian@mail.clayton.edu Smith-Magenis Syndrome, Ruby Johnson CHROMOSOMAL LOCATION Using Southern blot analysis (LOH and gene dosage) it has been shown that all patients have a deletion of two 17p11.2 markers. One breakpoint is located between D17S58 and D17S29, and the other breakpoint is distal to D17S71. TYPE OF INHERTIANCE This syndrome is a contiguous-gene deletion syndrome and is under diagnosed because of its usually mild clinical features. High -resolution chromosomal analysis is needed for diagnosis. INCIDENCE This syndrome occur 1 in 25,000 births. SYMPTOMS: speech delay brachycephaly broad nasal bridge brachydactyly developmental delay mental retardation in 58% of patients short fingers and toes behavioral problems: hyperactivity; head banging; hand/nail biting; pulling off finger and/or toenails; explosive outbursts; tantrums; destructive and aggressive behavior unusually formed ears hearing impairment in 68% of patients low muscle tone and/or feeding problems in infancy short stature sleep problems in 75% of patients eye problems in 85% of patients METABOLIC CAUSES Metabolic causes of SMS are that deletions in patients range from 2 to 9 megabases of DNA and may include more than 100 genes.

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