81. ORPHANET® : Rubinstein-Taybi, Syndrome De Translate this page ORPHANET. Accès à la base de données Orphanet. rubinstein-taybi, syndrome de. Accès direct aux détails Résumé Le syndrome de http://www.orpha.net/static/FR/rubinsteintaybi.html

Accès à la base de données Orphanet Rubinstein-Taybi, syndrome de Accès direct aux détails Résumé Le syndrome de Rubinstein-Taybi ou des pouces et des gros orteils trop larges est un syndrome dysmorphique associant retard mental, aspect caractéristique de la face et des extrémités, retard de croissance, malformations diverses et propension aux tumeurs. Il s'agit d'une anomalie rare d'origine génétique dont l'incidence est estimée à 1/125 000 nouveau-nés vivants. La prise en charge des patients est essentiellement symptomatique. Une éducation spécialisée est nécessaire avec souvent une aide précoce en psychomotricité et en orthophonie. Ce syndrome est généralement sporadique. Un gène lié à cette affection a été localisé et identifié sur le chromosome 16p13.3 (gène CBP ). La plupart des cas sont des mutations nouvelles. *Auteur : Pr D. Lacombe (janvier 2004)*. Texte(s) long(s) http://www.orpha.net/data/patho/FR/fr-SRT.pdf Signes de la maladie FENTE PALPEBRALE ANTIMONGOLOIDE GROS ORTEIL LARGE HYPERLAXITE LIGAMENTAIRE HYPERTELORISME MAINS COURTES/BRACHYDACTYLIE MICROCEPHALIE MICROSTOMIE/PETITE BOUCHE NEZ EN BEC D'OISEAU PALAIS OGIVAL/ETROIT PETITE TAILLE / NANISME POUCE LARGE RETARD MENTAL / PSYCHO-MOTEUR ANOMALIE DE LA DENTITION ANOMALIE OREILLE(POSITION/ORIENTATION) BUPHTALMIE/GLAUCOME CARIES DENTAIRES MULTIPLES CLINODACTYLIE DU 5EME DOIGT DIFFICULTE D'ELEVAGE DOIGTS PHALANGE DISTALE LARGE/DEVIEE EPICANTHUS FRONT BOMBE/BOSSES FRONTALES HIRSUTISME HYPERREFLEXIE HYPOTONIE RACINE DU NEZ LARGE RETROGNATHISME/MICROGNATHISME

82. Rubinstein Taybi Syndrome MTA Materials Transfer Agreement (rubinsteintaybi cosmids). This Agreement is entered into by and between 1) Leiden University (hereinafter http://www.lgtc.nl/home/forms/rubinstein-taybi_syndrome_MTA.html

Materials Transfer Agreement (Rubinstein-Taybi cosmids) This Agreement is entered into by and between: 1) Leiden University (hereinafter referred to as PROVIDER), more specifically the Department of Human Genetics of the Leiden University Medical Center, headed by Prof. Dr. G.J.B. van Ommen, with its principal place of business at: Wassenaarseweg 72, 2333 AL LEIDEN, the Netherlands and 2) ................................................... (name), recipient investigator, acting for and on behalf of ........................................................... (institute/address), hereinafter referred to as "the Institute" WHEREAS PROVIDER is the owner of the RT100, RT102, RT166, RT191 and RT203 cosmids , with the product description specified in Attachment I and of the associated information, know-how and Intellectual Property (hereinafter collectively referred to as "PROBE"); WHEREAS PROVIDER is willing to make available to third parties PROBE and specific related information considered proprietary (hereinafter referred to as "the Confidential Information") to third parties, provided a Material Transfer Agreement in the format hereof (hereinafter referred to as "an MTA") has been executed by such third parties; WHEREAS the Institute wishes to obtain the PROBE for a non-commercial research project to be performed in its own laboratories;

83. Rubinstein Taybi Syndrome UK Support Group About RTS. Our Pages. Guestbook. Forum. Chat Room. Contacts. Links. Visits Since. Jan 1st 2004. Welcome to the Rubinstein Taybi syndrome UK Support Group has been offering support for a number of http://www.rtsuk.org/

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84. RUBINSTEIN TAYBI SYNDROME : Contact A Family - For Families With Disabled Childr printer friendly, RUBINSTEIN TAYBI syndrome, RUBINSTEIN TAYBI syndrome SUPPORT GROUP. Mrs Rosemary Robertson Rubinstein Taybi syndrome http://www.cafamily.org.uk/Direct/r36.html

printer friendly RUBINSTEIN TAYBI 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 Rubinstein Taybi syndrome: Broad Thumb-Great Toe syndrome Children with Rubinstein-Taybi syndrome (RTS) usually have normal birthweights, but subsequent growth is poor, with most children being of short stature with a small head size. Developmental delay is usual, but varies from mild to severe. The most striking physical feature is broad, sometimes angulated thumbs and first toes. The facial features vary with age and include a prominent beaked nose and downslanting eyes. Undescended testes occur in males. Other variable features include congenital heart disease and kidney abnormalities, eye and hearing problems, feeding difficulties in infancy and constipation. Seizures may occur. Most people with Rubinstein-Taybi syndrome have friendly and loving personalities. Inheritance patterns Rubinstein-Taybi syndrome, although a genetic disorder, usually affects only a single person in the family. Changes (mutations or deletions) in a gene called CREBBP located on chromosome 16 are found in a significant number of people with RTS. These changes are sometimes seen on chromosome analysis but often will require special laboratory techniques to be found. These are usually new genetic changes in just the affected person. If the parents of a child with RTS have normal chromosomes, the chance of a second affected child is small, around 1 per cent. If, however, an individual with RTS has children of their own, the chance for a similarly affected child may be as high as 50 per cent.

85. Rubinstein Taybi Syndrome UK Support Group - Welcome Page Welcome to the Rubinstein Taybi syndrome UK Support Group. The group has been offering support for a number of years to parents with http://www.rtsuk.org/home.htm

Welcome to the Rubinstein Taybi Syndrome UK Support Group The group has been offering support for a number of years to parents with children affected by Rubinstein Taybi Syndrome. Initially, support was given by one mum who kept in touch with everyone by telephone or letter. To make use of today's technologies, www.RTSUK.org was set-up to provide information on RTS to a wider audience. Latest News Autumn 2002 Newsletter There is a new format for the Autumn 2002 RTS newsletter thanks to Maxine Aldred ( Click here to view RTS Booklet free of charge from any committee member. more news... How to use this site To navigate around this site simply click on any of the categories within the contents panel on the left side of this page. It is advisable to have your screen size set to a minimum of 800x600 and the browser maximised to full screen. This complexity of this website has been kept to a minimum to provide a user-friendly interface and to reduce the time needed to download pages. If you have any comments on, or would like to contribute to the website, please send an email to

86. NORD - National Organization For Rare Disorders, Inc. Rubinstein Taybi syndrome. To purchase fulltext report ($7.50) Copyright 1987, 1989, 1992, 1997, 1998, 2002 Synonyms of Rubinstein Taybi syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Rubinstein Ta

87. Dictionary Definition Of RUBINSTEIN-TAYBI SYNDROME PDF A mouse model of Rubinstein–Taybi syndrome Defective longterm http://www.dictionarybarn.com/RUBINSTEINTAYBI-SYNDROME.php

Dictionary definition of RUBINSTEIN-TAYBI SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words Ru rub Rubarth Rubarth's disease ... rugal columns of vagina Please select first two letters of word you are looking for RA RB RC RD ... RZ fiSearchFormMaxSetId='AX006027'; Top Words rugger jersey vertebra rugine rugitus rugosa ... Home Sponsored By: North Carolina Car Rentals North Dakota Car Rentals Ohio Car Rentals

88. Rubinstein Taybi Syndrome : On Medical Dictionary Online Link to the Medical Dictionary Online. Rubinstein Taybi syndrome. A chromosomal disorder characterized by MENTAL RETARDATION, broad http://www.online-medical-dictionary.org/?q=Rubinstein Taybi Syndrome

89. HealthCentral - Pediatrics Encyclopedia - Rubinstein-Taybi Syndrome Rubinstein Taybi syndromePO Box 57 Bear Creek, NC 27207 Phone (336) 5813700 Fax (336) 581-3766 Email mhdd@emji.net. Rubinstein Taybi syndrome Andrew S. Levitas, MD Cheryl S. Reid. http://www.healthcentral.com/peds/top/001249.cfm

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90. Rubinstein Taybi Syndrome Support Group - Patient UK Rubinstein Taybi syndrome Support Group. Rubinstein Taybi syndrome (RTS) is a genetic disorder with a range of physical and developmental features. http://www.patient.co.uk/showdoc.asp?doc=26739137

91. A R T S B R A S I L . O R G . B R Translate this page http://www.artsbrasil.org.br/

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