41. Rubinstein-Taybi Syndrome - Genetics Home Reference Where can I find additional information about rubinsteintaybi syndrome? rubinstein-taybi syndrome is a condition characterized by short stature, http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome

Home What's New Browse Handbook ... Search Rubinstein-Taybi syndrome Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Rubinstein-Taybi syndrome On this page: What is Rubinstein-Taybi syndrome? How common is Rubinstein-Taybi syndrome? ... help with understanding Rubinstein-Taybi syndrome? What is Rubinstein-Taybi syndrome? Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia (cancer of blood-forming tissue), and lymphoma (cancer of immune system cells). How common is Rubinstein-Taybi syndrome? This condition is uncommon; it occurs in an estimated 1 in 125,000 births. What genes are related to Rubinstein-Taybi syndrome?

42. Rubinstein-Taybi Syndrome - Related Gene(s) - Genetics Home Reference rubinsteintaybi syndrome. Back to condition summary. rubinstein-taybi syndrome.Related Gene(s). CREBBP CREB binding protein (rubinstein-taybi syndrome) http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/show/Related Gene(s)

Home What's New Browse Handbook ... Search Rubinstein-Taybi syndrome Back to condition summary Rubinstein-Taybi syndrome Related Gene(s) CREBBP : CREB binding protein (Rubinstein-Taybi syndrome) Last Comprehensive Review: November 2004 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

43. Rubinstein-Taybi Syndrome (www.whonamedit.com) rubinsteintaybi syndrome A congenital malformation complex. Also known asRubinstein’s syndrome. http://www.whonamedit.com/synd.cfm/3412.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Rubinstein-Taybi syndrome Also known as: Rubinstein’s syndrome Synonyms: Broad digits syndrome, broad thumb-great toe syndrome. Associated persons: Jack Herbert Rubinstein Hooshang Taybi Description: Congenital malformation complex characterised by small head, so-called bird face with beaked nose, high arched palate, downward slant of the eyes, broad flat thumbs and big toes, short stature, motor and mental retardation, with an IQ in the 17-86 range, and failure to thrive. There is also susceptibility to respiratory infections. Aetiology unknown, almost all cases have been sporadic. At the 1998 International Family Conference on Rubinstein-Taybi syndrome, at Cincinnati, Ohio, Rubinstein gave a "Historical Overview of the Broad Thumb-Hallux (Rubinstein-Taybi) Syndrome". We quote:

44. Ψ 10 Years HANDANALYSIS RESEARCH: Handanalysis On The World-wide-web A 15year-old boy with rubinstein-taybi syndrome associated with severe rubinstein-taybi syndrome (RTS) is a well-known disorder characterized by growth http://www.handresearch.com/hand/Evolutie/wwwscience2004pdjan-feb44Engels.htm

WWW palmistry The following concerns a guided tour around various websites, such as: Recent PubMed publications The one and only TOP 20 of the most popular palmistry websites Get your FREE ... Websites including names of many handanalysts And some partner websites A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. Balci S, Bostanci S, Ekmekci P, Cebeci I, Bokesoy I, Bartsch O, Gurgey E. Department of Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Turkey. kocyigit@medicine.ankara.edu.tr Rubinstein-Taybi syndrome (RTS) is a well-known disorder characterized by growth and mental retardation, typical facial features, short stature, and broad thumbs and toes. Although several cutaneous manifestations are observed in these patients, they are not diagnostic and are usually considered to be coincidental. Congenital malalignment of the great toenails is a very rare disorder that is characterized by lateral deviation of the nail plate along its longitudinal axis. The nail plate grows into the lateral nail fold resulting in pain and infection. It is usually present at birth or begins in early childhood. We report a patient with characteristic manifestations of RTS and congenital malalignment of the great toenails. The association of these two entities has not been reported previously. Publication Types: Case Reports Source: Pediatr Dermatol. 2004 Jan-Feb;21(1):44-7.

45. Research With Animals At Columbia University Rubinstein Taybi Syndrome rubinsteintaybi syndrome (RTS) is a combinationof mental retardation and bone deformities due to a mutation in the http://cumc.columbia.edu/research/animal/rubinstein.html

CU Home CU Medical Center Home Rubinstein-Taybi Syndrome Reducing the risk of birth defects and cognitive delay caused by this genetic syndrome Rubinstein-Taybi Syndrome (RTS) is a combination of mental retardation and bone deformities due to a mutation in the regulatory gene that turns other genes "on" and "off". Although rare, this disease has devastating consequences, causing developmental abnormalities and severe learning disabilities. Columbia University's Dr. Eric Kandel, a Nobel Prize laureate for his work in the field of memory, finds Rubinstein-Taybi Syndrome a fascinating challenge. Having identified the genes responsible for memory loss in patients with Alzheimer's or Parkinson's diseases, Dr. Kandel's team has devised drugs that could reverse age-related memory loss. But is it possible to restore a memory deficit in a person suffering from a cognitive disease since birth? Dr. Kandel and his team have modeled RTS in mice and have been able to cure the mice of the mental retardation caused by RTS. Repeatedly turning the affected gene on and off, the team has found it can rescue a major part of the cognitive deficit. Even the behavioral problems expected because of the abnormality at birth have been reversed. Dr. Kandel and his fellow researchers are committed to helping RTS sufferers and their families find a cure for this disabling disease.

46. Rubinstein-Taybi Syndrome Information Diseases Database rubinsteintaybi syndrome,Rubenstein-Taybi syndrome (sic), Disease DatabaseInformation. http://www.diseasesdatabase.com/ddb29344.htm

Diseases Database Index Sponsors Contact ... Previous Page Rubinstein-Taybi syndrome information Search 2 synonyms or equivalents were found. Rubinstein-Taybi syndrome aka/or Rubenstein-Taybi syndrome (sic) may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Rubinstein-Taybi syndrome: Definition(s) via UMLS Code translations and terms via UMLS Rubinstein-Taybi syndrome: specific web sites Send Rubinstein-Taybi 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 17:54:07 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

47. Overview, Cincinnati Children's Hospital Medical Center The rubinsteintaybi syndrome (RTS) Program at Childrens Hospital Medical Centerof Cincinnati offers ongoing consultation and information to individuals http://www.cincinnatichildrens.org/svc/alpha/r/rts/

Home Contact Us Site Map Go to Advanced Search ... Rubinstein-Taybi Syndrome Program Overview Faculty and Staff Contact Us Rubinstein-Taybi Syndrome Program Overview The Cincinnati Rubinstein-Taybi Syndrome (RTS) Program at Children's Hospital Medical Center of Cincinnati offers ongoing consultation and information to individuals with RTS and their caregivers worldwide. The Program welcomes both in-person clinical evaluations, physician consultations, and referrals either electronically and/or by mail utilizing: personal records, a specific series of photographs and x-rays reports. The goals of the Cincinnati RTS Program are: To confirm the diagnosis To create "best-practice" treament strategies To facilitate high quality research related to the syndrome To conduct educational outreach The Program has developed research tools that capture standardized information from both the individual and his/her primary caregiver on over 150 variables. That information is maintained for all confirmed cases within a computerized database that affords tremendous research opportunities to further the understanding of the syndrome and its manifestations across the lifespan. The Cincinnati RTS Program functions in cooperation with the national RTS-USA Parent Support Group and a number of similar international support groups in Canada, Netherlands, Brazil, Argentina and the United Kingdom.

48. Rubinstein Taybi Syndrome Support Group, Cincinnati Children's Hospital Medical Cincinnati Children s Hospital Medical Center offers information on therubinsteintaybi syndrome Support Group. http://www.cincinnatichildrens.org/visit/support/groups/rubinstein.htm

Home Contact Us Site Map Go to Advanced Search ... Polio Rubinstein-Taybi Syndrome Sudden Infant Death Syndrome Velocardiofacial Syndrome Verbal Apraxia Visual Impairment Support Groups Rubinstein-Taybi Syndrome Cincinnati Children's Hospital Medical Center provides support for patients and families through the Rubinstein-Taybi Syndrome Support Group. For more information about the Rubinstein-Taybi Syndrome Support Group, call 785-697-2984 or visit the Rubinstein-Taybi web site . Families may also recieve support and information from the Family Resource Center Newsroom Events Maps / Directions ... Stay Informed 3333 Burnet Avenue, Cincinnati, Ohio 45229-3039 Legal Notice Serving infants to adolescents, Cincinnati Children's Hospital Medical Center is an international leader in pediatric health care, research and education. Send this page to a friend Send ecards to patients or friends. Printer-friendly Corporate Information ... Community Education and Events divsLoaded=1;

49. Kprones RubinsTaybiID10063 Confirmation of assignment of a locus for rubinsteintaybi syndrome gene to Deletion at chromosome 16p13.3 as a cause of rubinstein-taybi syndrome http://www.infobiogen.fr/services/chromcancer/Kprones/RubinsTaybiID10063.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Rubinstein-Taybi syndrome (RTS) Identity Note The Rubinstein-Taybi syndrome is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, typical face, and various malformations. Other names Broad thumb ­ hallux syndrome Inheritance The prevalence at birth was estimated to be 1 in 125,000 living newborn infants. RTS is caused by an autosomal dominant mutation. Clinics Phenotype and clinics The main clinical features of RTS are facial dysmorphism, broad thumbs, broad big toes, and growth and mental retardation. The facial appearance is different in the newborn, but the most striking facial features in childhood include microcephaly, downslanting palpebral fissures, prominent and beaked nose with low nasal septum, highly arched palate, and mild micrognathia. Broad thumbs and broad halluces are present in almost all cases. Other extremities abnormalities include angulation deformities of the thumbs and halluces, broad distal phalanges of other fingers, clinodactyly of the 5th finger, persistent fetal fingertip pads and overlapping toes. Growth retardation is generally marked during infancy with feeding problems, and with a tendency to overweight in later childhood and adulthood. Constipation, recurrent upper respiratory infections and conjunctivitis are frequent problems in infancy.

50. Rubinstein-Taybi Syndrome Topic - Unified Search Environment rubinsteintaybi syndrome Topic Tree rubinstein-taybi syndrome MSH/MH/D012415 MSH/PM/D012415 MSH/PM/D012415 Broad Thumb-Hallux Syndrome http://www.use.hcn.com.au/portals/shared/subject.`Rubinstein-Taybi Syndrome`/hom

Rubinstein-Taybi Syndrome Topic Tree Definition: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). Synonyms and Source Vocabularies: Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Rubinstein Syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

51. Rubinstein-Taybi Syndrome With Humoral And Cellular Defects: A Case Report -- Vi The first description of rubinsteintaybi syndrome (broad thumb-hallux rubinstein-taybi syndrome was initially defined as a complex of clinical http://adc.bmjjournals.com/cgi/content/full/83/4/360

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Villella, A. Articles by Hostoffer, R. W Related Collections Other Infectious Diseases Other Neurology Gastro-esophageal reflux Other immunology ... Drugs: immunological products and vaccines Arch Dis Child 360-361 ( October ) Rubinstein-Taybi syndrome with humoral and cellular defects: a case report Anthony Villella a , Dalia Bialostocky b , Eli Lori a , Howard Meyerson c , Robert W Hostoffer d a Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA, b Hospital infantil de Mexico "Federico Gomez", Mexico City, Mexico

52. Rubinstein-Taybi Syndrome - Washington DC rubinsteintaybi syndrome - Washington Hospital Center is located in Washington DC. http://www.whcenter.org/15319.cfm

cddcodebase = "navtools/topmenu/";cddcodebase367050 = "navtools/topmenu/"; Article Manager Home Back to Health Library Print This Page ... Polydactyly - an infant's hand Rubinstein-Taybi syndrome Definition: Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Alternative Names: Rubinstein syndrome Causes, incidence, and risk factors: Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995. Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected. The classic feature is broad thumbs and great toes, but typically there is also

53. Rubinstein-Taybi Syndrome : Rare Disorders : Disorders And Diseases : Health And rubinsteintaybi syndrome (Subscribe). Links. Rubinstein Taybi Syndrome SupportGroup (UK) http//www.rtsuk.org/. Information, forum, links, contacts, http://www.internet-web-directory.com/Health_and_Fitness/Disorders_and_Diseases/

Skip to Content Login/Register Web Directory by Internet-Web-Directory.com Web Directory Home ... Link Notify Search the entire directory only this category Advanced Search Web Directory Health and Fitness Disorders and Diseases ... Rare Disorders Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Subscribe Links Rubinstein Taybi Syndrome Support Group (UK) http://www.rtsuk.org/ Information, forum, links, contacts, and guestbook. More Details Review It Rate It Bookmark It ... http://www.rubinstein-taybi.org A site devoted to the families and people diagnosed with this syndrome. More Details Review It Rate It Bookmark It Sponsor Links Love Romance Dating Gift Ideas at Gifts-Shop.com Internet-Web-Directory.com

54. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome is an autosomal dominant syndrome characterized bymental retardation, broad thumbs and toes, and facial abnormalities. Synopsis http://www.humpath.com/article.php3?id_article=4689

55. Homepage Peters Lab The rubinsteintaybi syndrome and other malformations Publications by ourgroup on the Rubinstin-Taybi syndrome. Publications from our laboratory in http://www.humgen.nl/lab-peters/RTS/

The Rubinstein-Taybi syndrome and other malformations Welcome to our pages... Modified last 18/12/2002 This research is headed by Dr. Dorien J.M. Peters and Prof. Dr. Martijn H. Breuning . The main aims of our research are the characterization and functional analysis of genes involved malformation syndromes, particularly the Rubinstein-Taybi syndrome The other main line of research is the characterization and functional analysis of genes involved in the pathophysiology of Polycystic Kidney Disease using genetic, cellular and transgenic mouse model approaches. Publications by our group on the Rubinstin-Taybi syndrome. Publications from our laboratory in peer-reviewed journals Teaching Student projects (for students Biomedical Sciences, Medicine and Biology) Positions available There are currently no positions available. Who we are and how to contact us

56. Archives Of RTS@MAELSTROM.STJOHNS.EDU rubinsteintaybi syndrome E-Mailing List. Search the archives Post to the list Join or leave the list (or change settings) Manage the list (list http://maelstrom.stjohns.edu/archives/rts-list.html

Archives of RTS@MAELSTROM.STJOHNS.EDU Rubinstein-Taybi Syndrome E-Mailing List Search the archives Post to the list Join or leave the list (or change settings) Manage the list (list owners only) September 2005 August 2005 July 2005 June 2005 ... January 1999 Back to the LISTSERV home page at MAELSTROM.STJOHNS.EDU.

57. HighWire -- Browse Journals - Rubinstein-Taybi Syndrome Browse Journals publishing on rubinsteintaybi syndrome, (return to Topic Listpage) Alphabet, , Frequency of articles in rubinstein-taybi syndrome http://highwire.stanford.edu/lists/topic_dir/602925/602926/603021/603024/focus.d

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Rubinstein-Taybi Syndrome: (return to Topic List page) Rubinstein-Taybi Syndrome Sort by: Alphabet Frequency of articles in Rubinstein-Taybi Syndrome Focus of journal on Rubinstein-Taybi Syndrome What's this? Journals focusing on Rubinstein-Taybi Syndrome (in order by highest focus) info free ISSUES Human Molecular Genetics info ... Nervous System Chromosomal Disorders Rubinstein-Taybi Syndrome Home Adv. Search For Institutions For Publishers ... partners/suppliers

58. PharmGKB: Rubinstein-Taybi Syndrome Rubinstein Syndrome; Rubinstein Taybi Syndrome; Syndrome, Broad ThumbHallux;Syndrome, Rubinstein; Syndrome, Rubinstein-Taybi; Syndromes, Broad Thumb- http://www.pharmgkb.org/do/serve?objId=PA445581&objCls=Disease

59. Rubinstein-Taybi Syndrome Ocular features in rubinsteintaybi syndrome investigation of 24 patients Molecular studies in 10 cases of rubinstein-taybi syndrome, including a mild http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=256

60. Rare Diseases Terms - Office Of Rare Diseases characteristic facies, and mental retardation. RSTS. RTS. Broad thumbhalluxsyndrome. Information about rubinstein-taybi syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=7593

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