21. OMIM - SOTOS SYNDROME http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117550

22. Entrez PubMed The NSD1 gene was recently found to be responsible for sotos syndrome, NSD1 aberrations are rather specific for sotos syndrome, but have also been http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

23. Sotos Syndrome sotos syndrome Support Association Three Danda Square East, 235 Wheaton, IL60187 Phone (888) 246SSSA or (708) 682-8815 e-mail sssa@well.com http://www.kumc.edu/gec/support/sotos.html

Sotos Syndrome Sotos Syndrome Support Association Three Danda Square East, #235 Wheaton, IL 60187 Phone: (888) 246-SSSA or (708) 682-8815 e-mail: sssa@well.com Web site: http://www.well.com/user/sssa/ Child Growth Foundation - HeightMatters.org.uk 2 Mayfield Avenue Chiswick, London, United Kingdom Phone: +44 (0)181 994 7625 / 995 0257 E-mail: CGFLONDON@aol.com Sotos Association - L'Eveil 64 avenue G. Clémenceau 63800 Cournon D'Auvergne France Phone: 04-73-84-50-76 E-mail: sotoseveil@infonie.fr Eltern-Initiative Sotos-Syndrom (EISS), Germany, auf Deutsch Web site: http://www.sotossyndrom.de/ Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Search AltaVista for "Sotos Syndrome" GeneClinics To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised September 30, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

24. Sotos Syndrome sotos syndrome is a rare genetic disorder characterized by excessive growth thatoccurs prior to and http://my.webmd.com/hw/health_guide_atoz/nord271.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Sotos Syndrome Important It is possible that the main title of the report Sotos Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebral Gigantism Disorder Subdivisions None General Discussion Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 TDD: (914)997-4764 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910

25. Sotos Syndrome sotos syndrome is a rare genetic disorder characterized by excessive growth thatoccurs prior to and after birth (prenatally and postnatally). http://www.bchealthguide.org/kbase/nord/nord271.htm

var hwPrint=1;var hwDocHWID="nord271";var hwDocTitle="Sotos Syndrome";var hwRank="1";var hwSectionHWID="nord271-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Sotos Syndrome Important It is possible that the main title of the report Sotos Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebral Gigantism Disorder Subdivisions None General Discussion Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 TDD: (914)997-4764 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910 Tel: (301)565-3842 Fax: (301)565-3843 Tel: (800)433-5255 TDD: (817)277-0553 Email: info@thearc.org Internet: http://www.thearc.org/ Sotos Syndrome Support Association P.O. Box 4626

26. Sotos Syndrome sotos syndrome. DESCRIPTION A genetic disorder causing physical overgrowth withdelayed motor, cognitive, and social development. CAUSES Unknown Synonyms http://www.5mcc.com/Assets/SUMMARY/TP1069.html

Sotos syndrome DESCRIPTION: A genetic disorder causing physical overgrowth with delayed motor, cognitive, and social development. CAUSES: Unknown Synonyms: cerebral gigantism ICD-9-CM: 253.0 acromegaly and gigantism Author(s): Mark R. Dambro, MD

27. Mutations In NSD1 Are Responsible For Sotos Syndrome, But Are Not A Frequent Fin The European Journal of Human Genetics is the official Journal of the EuropeanSociety of Human Genetics, publishing highquality, original research papers, http://www.nature.com/doifinder/10.1038/sj.ejhg.5201050

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics November 2003, Volume 11, Number 11, Pages 858-865 Table of contents Previous Next Full text ... PDF Article Mutations in are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes , Gabriele Gillessen-Kaesbach , Peter Meinecke , Beate Albrecht , Luitgard M Neumann , Volker Hesse , Stefanie Balg , Frank Majewski , Sigrun Fuchs , Petra Zschieschang , Monika Greiwe , Kirsten Mennicke , Friedmar R Kreuz , Harald J Dehmel , Burkhard Rodeck , Sigrid Tinschert , Stefan Mundlos and Denise Horn Department of Internal Medicine, Division of Medical Genetics, Istanbul University, Turkey stefan.mundlos@charite.de Deceased. Abstract Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 ( ) gene have been described as the major cause of Japanese patients with the Sotos syndrome, whereas point mutations have been identified in the majority of European Sotos syndrome patients. In order to investigate a possible phenotype genotype correlation and to further define the predictive value of mutations, we performed mutational analysis of the

28. Haploinsufficiency Of NSD1 Causes Sotos Syndrome - Nature Genetics Mutations in NSD1 are responsible for sotos syndrome, but are not a frequentfinding in other overgrowth phenotypes European Journal of Human Genetics http://www.nature.com/doifinder/10.1038/ng863

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Brief Communication Nature Genetics Haploinsufficiency of causes Sotos syndrome Naohiro Kurotaki , Kiyoshi Imaizumi , Naoki Harada , Mitsuo Masuno , Tatsuro Kondoh , Toshiro Nagai , Hirofumi Ohashi , Kenji Naritomi , Masato Tsukahara , Yoshio Makita , Tateo Sugimoto , Tohru Sonoda , Tomoko Hasegawa , Yasuaki Chinen , Hiro-aki Tomita , Akira Kinoshita , Tsuyoshi Mizuguchi , Koh-ichiro Yoshiura , Tohru Ohta , Tatsuya Kishino , Yoshimitsu Fukushima , Norio Niikawa Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan. CREST, Japan Science and Technology Corporation, Kawaguchi, Japan. Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan. Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan.

29. Sotos Syndrome Information Diseases Database sotos syndrome,Cerebral gigantism, Disease Database Information. http://www.diseasesdatabase.com/ddb29134.htm

Diseases Database Index Sponsors Contact ... Previous Page Sotos syndrome information Search 2 synonyms or equivalents were found. Sotos syndrome aka/or Cerebral gigantism may cause or feature (Follow link for list.) may be allelic with (Follow link for list.) belong(s) to the category of (Follow link for list.) Sotos syndrome: Definition(s) via UMLS Code translations and terms via UMLS Sotos syndrome: specific web sites Send Sotos syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 19:28:51 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

30. Sotos Syndrome Articles, Support Groups, And Resources sotos syndrome articles, support groups, and resources for patients from Med HelpInternational (www.medhelp.org) http://www.medhelp.org/HealthTopics/Sotos_Syndrome.html

[Health Topics A-Z] A B C D ... Z Sotos Syndrome Support Groups: Sotos Syndrome Support Association Med Help International Search Medical Forums / Message Boards ... Site Map Revised: 9/7/2005

31. The DRM WebWatcher: Sotos Syndrome A Disability Resources Monthly guide to the best online resources about sotos syndrome. http://www.disabilityresources.org/SOTOS.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Sotos Syndrome Updated 1/2004 A B C D ... About/Hint/Link Sotos syndrome is a rare genetic disorder characterized by excessive growth prior to and after birth. Children affected by Sotos syndrome may exhibit characteristic facial differences and developmental delays. For information about Sotos syndrome, check these sites. Cerebral Gigantism Technical information from Online Mendelian Inheritance in Man (OMIM). Sotos Syndrome Support Association The web site of this nonprofit organization includes FAQs, support, and links. Related subjects: Developmental Disabilities Facial Differences Growth Disorders Rare Disorders ... Resources in your state (c) 1997-2005 Disability Resources, inc.

32. The DRM WebWatcher: Sotos Syndrome A Disability Resources Monthly guide to the best online resources about NailPatella Syndrome. http://www.disabilityresources.org/NAIL.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Nail Patella Syndrome (NPS) Updated 2/2004 A B C D ... About/Hint/Link The Nail Patella Syndrome (also known as hereditary onycho-osteodysplasia, or HOOD) is a rare, inherited disorder that can cause nail and skeletal defects, small or absent kneecaps, "iliac horns" at the rear of the pelvis, renal disease, and other conditions. Nail-Patella Syndrome; NPS A clinical and genetic overview from the Online Mendelian Inheritance in Man (OMIM) database. Nail Patella Syndrome Worldwide Born from an online community, this newly founded nonprofit organization promotes awareness of NPS among professionals as well as the public. Its website includes frequently asked questions as well as information about the organization. Rare Disorders: Nail-Patella Syndrome This good, one-page overview from the Medstudents' Homepage in Brazil includes several photographs and a bibliography. Related Subjects Rare Disorders Resources in your state (c) 1997-2005 Disability Resources, inc.

33. Kprones SotosID10045 sotos syndrome a study of the diagnostic criteria and natural history. Familial sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. http://www.infobiogen.fr/services/chromcancer/Kprones/SotosID10045.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Sotos syndrome Identity Other names Cerebral gigantism Sos Inheritance Generally sporadic, a few inherited cases. The familial case reported in 2003 was proved to have NSD1 mutation Clinics Phenotype and clinics Excessive growth, advanced bone age, typical facial gestalt,developmental delay. In infancy growth is rapid, but settles down above the >97th centile in early childhood. The adult height remains close to normal. Large hands and feet Characteristic facial gestalt: macrocephaly (>97th centile), frontal bossing, prognathism, hypertelorism, and antimongoloid slant of the palpebral fissures Occasional hypotonia and delay in motor and language development Cardiac, urogenital, musculoskeletal, and ophthalmologic anomalies are observed. Neoplastic risk Relatively high. Neoplasms in SoS are found with a frequency of 2.2-3.9% Cytogenetics Inborn conditions Routine chromosome analysis usually shows normal karyotype. Chromosomal abnormality concering 5q35 were reported. In addition, several chromosomal translocations other than 5q have been published. Genes involved and Proteins Gene Name Location Note Haploinsufficiency of NSD1 is a major cause of SoS.

34. Kprones BannayanID10044 sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.Ruvalcaba RHA, Myhre S, Smith DW. Clin Genet 1980; 18 413416. http://www.infobiogen.fr/services/chromcancer/Kprones/BannayanID10044.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Bannayan-Riley-Ruvalcaba syndrome Identity Other names Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Macrocephaly, pseudopapilledema, multiple hemangiomata Macrocephaly, multiple lipomas, hemangiomata Inheritance autosomal dominant; existence of sporadic cases Clinics Note Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are : Beckwith-Weideman syndrome Sotos syndrome (cerebral gigantism) Hemihyperplasia (hemihypertrophy), and Simpson Golabi Behemel syndrome Phenotype and clinics onset in chilhood (in contrast with Cowden disease , although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients). - overgrowth at birth (postnatal growth decelerates). - macrocephaly - hypotonia and mental deficiency - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.

35. Healthfinder® — Sotos Syndrome Support Association - SSSA The sotos syndrome Support Association (SSSA) was organized in 1988 to providea support network for families and individuals affected by the syndrome. http://www.healthfinder.gov/orgs/HR2419.htm

Help Advanced Search News Library ... Organizations Sotos Syndrome Support Association - SSSA Organization URL(s) sssa@well.com www.well.com/user/sssa/ Other Contact Information Three Danada Square East Wheaton, IL 60187 888-246-7772 (Voice - Toll-free) Description The Sotos Syndrome Support Association (SSSA) was organized in 1988 to provide a support network for families and individuals affected by the syndrome. Sotos syndrome, also known as cerebral gigantism, is a neurological brain-based disorder resulting in physical and mental developmental delays in children. The goals of the SSSA are to provide a social support environment for families and individuals with Sotos syndrome; increase public awareness and education about the disorder; and provide opportunites for professionals working with affected individuals to collect and share data for research. The SSSA has members across the United States, Canada and Great Britain, and sponsors an annual conference. Online Resources What is Sotos Syndrome?

36. Healthfinder® — What Is Sotos Syndrome? This minifact sheet provides basic consumer information about this geneticdisorder, also known as cerebral gigantism because of the distinctive head shape http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=2278&lang=1

37. Growth In Sotos Syndrome -- Agwu Et Al. 80 (4): 339 -- Archives Of Disease In Ch These showed that patients with sotos syndrome are excessively tall at birth, In infancy, the mean growth rate of children with sotos syndrome is http://adc.bmjjournals.com/cgi/content/full/80/4/339

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Agwu, J C Articles by Cole, T R P Related Collections Other Endocrinology Arch Dis Child 339-342 ( April ) Growth in Sotos syndrome J C Agwu, a N J Shaw, b J Kirk, b S Chapman, b D Ravine, c T R P Cole d a City Hospital NHS Trust, Dudley Road, Birmingham B18 7QH, UK, b Birmingham Children's Hospital NHS Trust, Steelhouse Lane, Birmingham B4 6NL, UK, c Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF4 4XU, UK, d Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK Correspondence to: Dr Cole.

38. Cancer In Sotos Syndrome -- YULE 80 (5): 493 -- Archives Of Disease In Childhood We recently treated a 3 year old boy with sotos syndrome for abdominal B cell The risk of malignant disease in sotos syndrome has been estimated as 1 in http://adc.bmjjournals.com/cgi/content/full/80/5/493b

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Submit a response Alert me when this article is cited Alert me when eLetters are posted ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Alert me to new issues of the journal Download to citation manager PubMed Articles by YULE, S M Arch Dis Child 493 ( May ) Letters to the editor Cancer in Sotos syndrome E DITOR We greatly enjoyed reading the article by Cole on overgrowth disorders in childhood. While the article alluded to the increased risk of malignant disease among children with Beckwith-Wiedeman syndrome (BWS) no mention was made of the increased risk of cancer in Sotos syndrome. We recently treated a 3 year old boy with Sotos syndrome for abdominal B cell lymphoblastic lymphoma (Murphy stage III) in accordance with United Kingdom children's cancer study group protocol 9002. Although his lymphoma exhibited only a partial response

39. Search % Of De Novo Vs Inherited Apparently Balanced sotos syndrome is characterized by large body size (starting before birth) In 2002, the major gene involved in sotos syndrome (NSD1) was discovered http://www.chromodisorder.org/sytrix/card_list.php3?dbid=63&id=481

40. Congenital, Hereditary, And Neonatal Diseases And Abnormalities About sotos syndrome P Heinricy Tall Persons Club (UK). sotos syndrome HomePage - SSSA (US). sotos syndrome A Case Report M Alhumaidi http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 97    Back | 1  | 2  | 3  | 4  | 5  | Next 20