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rubinstein-taybi syndrome - rare genetic multisystem disorder with mental retardation and broad thumbs and big toes Definition for Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. more Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux 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, and lymphoma. This condition is inherited in an autosomal dominant pattern and is uncommon occurring in an estimated 1 in 125,000 births. less some common symptoms delayed development dental problems not gaining weight poor appetite some related diagnoses 1 - 7 of 15 diagnoses common variable immunodeficiency human immunodeficiency virus infections malnutrition hydrocephalus fetal alcohol syndrome Hartnup disease drugs and toxins   more do i have 'Rubinstein-Taybi Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'rubinstein-taybi syndrome' 1 - 5 of 12 diagnostic tests Chromosomal analysis Rubinstein-Taybi Syndrome and Chromosomal analysis Fluorescent in situ hybridization (FISH) Rubinstein-Taybi Syndrome and Fluorescent in situ hybridization (FISH) Molecular Genetic Studies Rubinstein-Taybi Syndrome and Molecular Genetic Studies ECHOcardiogram Rubinstein-Taybi Syndrome and ECHOcardiogram EEG - Electroencephalogram Rubinstein-Taybi Syndrome and EEG - Electroencephalogram EKG Electrocardiogram Rubinstein-Taybi Syndrome and EKG X-rays Rubinstein-Taybi Syndrome and X-rays Brain MRI Rubinstein-Taybi Syndrome and Brain MRI CT brain Rubinstein-Taybi Syndrome and CT brain CT scan Rubinstein-Taybi Syndrome and CT scan Comprehensive eye exam Rubinstein-Taybi Syndrome and Comprehensive eye exam Developmental testing Rubinstein-Taybi Syndrome and Developmental testing for more please login, login is free (click to login) therapeutic procedures for 'Rubinstein-Taybi Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Rubinstein-Taybi Syndrome: therapeutic procedure search results for 'rubinstein-taybi syndrome' rankings are computer generated. please consult your health care provider. medications search results for 'rubinstein-taybi syndrome' rankings are computer generated. please consult your health care provider. web search results for rubinstein-taybi syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome - Wikipedia, the free encyclopedia 1 Features of Rubinstein-Taybi syndrome. 2 Genetics. 3 References. 4 External links ... RTS - Rubinstein-Taybi Syndrome - A site devoted to the families and people ... http://en.wikipedia.org/wiki/Rubinstein-Taybi_syndrome   en.wikipedia.org - summary Rubinstein-Taybi syndrome - Genetics Home Reference Rubinstein-Taybi syndrome is a condition characterized by short stature, ... Mutations in the CREBBP gene are responsible for some cases of Rubinstein-Taybi syndrome. ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome   ghr.nlm.nih.gov - summary RUBINSTEIN-TAYBI SYNDROME - Pedbase.org PEDBASE.org - The Pediatric Database - Detailed information of RUBINSTEIN-TAYBI SYNDROME ... syndrome first described by Rubinstein and Taybi in 1963 although ... http://pedbase.org/r/rubinstein-taybi-syndrome   pedbase.org - summary Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, , and characteristic facial features. http://adam.about.com/encyclopedia/001249sym.htm   adam.about.com - summary Bilateral extra tarsal bones in Rubinstein-Taybi syndrome: the fourth ... ... extra tarsal bones in Rubinstein-Taybi syndrome: the fourth cuneiform bones. ... Rubinstein-Taybi syndrome is a syndrome of mental retardation associated with ... http://www.ncbi.nlm.nih.gov/pubmed/10087122   www.ncbi.nlm.nih.gov - summary Rubinstein-Taybi syndrome - References - Genetics Home Reference Genetic heterogeneity in Rubinstein-Taybi Syndrome: Delineation of the phenotype ... Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet. 2003 Jun 1; ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/show/References   ghr.nlm.nih.gov - summary Rubinstein-Taybi syndrome. 1: Eur J Hum Genet. 2006 Sep;14(9):981-5. Epub 2006 Jul 26. Rubinstein-Taybi syndrome. ... Rubinstein-Taybi Syndrome/therapy. p300-CBP Transcription Factors ... http://www.ncbi.nlm.nih.gov/pubmed/16868563   www.ncbi.nlm.nih.gov - summary Rubinstein-Taybi syndrome - Educational resources - Information pages ... ... in the Genetics Home Reference condition summary on Rubinstein-Taybi syndrome. ... Ask the Geneticist: Growth in people with Rubinstein-Taybi syndrome ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/sho...   ghr.nlm.nih.gov - summary Rubinstein-Taybi syndrome. 1: J Can Dent Assoc. 1989 Oct;55(10):821-2. Rubinstein-Taybi syndrome. Cheung WS. A case of Rubinstein-Taybi syndrome (RTS) is presented. ... http://www.ncbi.nlm.nih.gov/pubmed/2679994   www.ncbi.nlm.nih.gov - summary Rubinstein-Taybi syndrome - Related Chromosome(s) - Genetics Home Reference Genetic Conditions > Rubinstein-Taybi syndrome > Related Chromosome(s) chromosome 16 ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/sho...   ghr.nlm.nih.gov - summary Rubinstein-Taybi Syndrome -- GeneReviews -- NCBI Bookshelf Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Rubinstein-Taybi Syndrome ... Copyright © 1993?2009 All Rights Reserved University of ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...   www.ncbi.nlm.nih.gov - summary Rubinstein-Taybi syndrome - MedlinePlus - Health information - Genetics ... Genetic Conditions > Rubinstein-Taybi syndrome > MedlinePlus - Health information ... on Rubinstein-Taybi syndrome. Encyclopedia: Rubinstein-Taybi syndrome ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. Gardner DG, Girgis SS. Dental casts of fourteen cases of Rubinstein-Taybi syndrome (RTS) were studied. ... http://www.ncbi.nlm.nih.gov/pubmed/286273?ordinalpos=1&itool...   www.ncbi.nlm.nih.gov - summary Rubinstein-Taybi syndrome - Related Gene(s) - Genetics Home Reference Genetic Conditions > Rubinstein-Taybi syndrome > Related Gene(s) CREBBP: CREB binding protein ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/show/Related+Gene(s)   ghr.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. ... There is no specific treatment for Rubinstein-Taybi syndrome. ... http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm   www.nlm.nih.gov - summary Rubinstein-Taybi syndrome - Patient support - For patients and families ... Genetic Conditions > Rubinstein-Taybi syndrome > Patient support - For ... in the Genetics Home Reference condition summary on Rubinstein-Taybi syndrome. ... http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome/show/Patient+support   ghr.nlm.nih.gov - summary Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and ... There is no specific treatment for Rubinstein-Taybi syndrome. ... http://adam.about.com/encyclopedia/infectiousdiseases/Rubins...   adam.about.com - summary Orphanet: Rubinstein Taybi syndrome Rubinstein-Taybi syndrome. Orpha number. ORPHA783. Prevalence of rare ... Rubinstein-Taybi syndrome is characterized by congenital anomalies (microcephaly, ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=783   www.orpha.net - summary Bone Diseases - Genetics Home Reference Pfeiffer syndrome. platyspondylic lethal skeletal dysplasia, Torrance type ... Rothmund-Thomson Syndrome. Rubinstein-Taybi syndrome. SADDAN. Saethre-Chotzen syndrome ... http://www.ghr.nlm.nih.gov/conditionGroup=bonediseases   www.ghr.nlm.nih.gov - summary Talk:Rubinstein-Taybi syndrome - Wikipedia, the free encyclopedia Talk:Rubinstein-Taybi syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... en.wikipedia.org/wiki/Talk:Rubinstein-Taybi_syndrome" ... http://en.wikipedia.org/wiki/Talk:Rubinstein-Taybi_syndrome   en.wikipedia.org - summary Rubinstein-Taybi Syndrome -- GeneReviews -- NCBI Bookshelf Table 1. Molecular Genetic Testing Used in Rubinstein-Taybi Syndrome. Gene Symbol ... Evidence suggests that Rubinstein-Taybi syndrome (RSTS) is caused by ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rsts   www.ncbi.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Microcephaly Cornelia de Lange syndrome. Cri du chat syndrome. Down syndrome. Rubinstein-Taybi syndrome. Seckel syndrome. Smith-Lemli-Opitz syndrome. Trisomy 13. Trisomy 18 ... http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm   www.nlm.nih.gov - summary Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive ... Table 1. Molecular Genetic Testing Used in Rubinstein-Taybi Syndrome. Testing Method ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Encyclopedia R-Rz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Rubinstein Taybi Syndrome. Rubinstein ... http://health.yahoo.com/ency/r/   health.yahoo.com - summary Pinna abnormalities and low-set ears Beckwith-Wiedemann syndrome. Trisomy 13. Rubinstein-Taybi syndrome. Smith-Lemli-Opitz syndrome. When to Contact a Medical Professional ... http://adam.about.com/encyclopedia/003303.htm   adam.about.com - summary Holt-Oram syndrome - Wikipedia, the free encyclopedia ... syndrome · Rubinstein-Taybi syndrome · ectromelia ... Rubinstein-Taybi syndrome. Retrieved from "http://en.wikipedia.org/wiki/Holt-Oram_syndrome" ... http://en.wikipedia.org/wiki/Holt-Oram_syndrome   en.wikipedia.org - summary MedlinePlus Medical Encyclopedia: Frontal bossing Crouzon syndrome. Hurler syndrome. Pfeiffer syndrome. Rubinstein-Taybi syndrome. Russell-Silver syndrome (Russell-Silver dwarf) ... http://www.nlm.nih.gov/medlineplus/ency/article/003301.htm   www.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Pinna abnormalities and low-set ears Down syndrome. Turner syndrome ... Beckwith-Wiedemann syndrome. Trisomy 13. Rubinstein-Taybi syndrome. Smith-Lemli-Opitz syndrome ... http://www.nlm.nih.gov/medlineplus/ency/article/003303.htm   www.nlm.nih.gov - summary Chromosomal Deletion Syndromes: Chromosomal Anomalies: Merck Manual ... 5p-Deletion (cri du chat syndrome) ... Prader-Willi syndrome (see Endocrine and Metabolic Disorders in Children: Secondary) ... Rubinstein-Taybi syndrome. 16p13 ... http://www.merck.com/mmpe/print/sec19/ch294/ch294f.html   www.merck.com - summary CREBBP - CREB binding protein - Genetics Home Reference Rubinstein-Taybi syndrome - caused by mutations in the CREBBP gene ... CREB binding protein (Rubinstein-Taybi syndrome) See How are genetic conditions and ... http://ghr.nlm.nih.gov/gene=crebbp   ghr.nlm.nih.gov - summary Fountain syndrome - Wikipedia, the free encyclopedia Fountain syndrome is an autosomal recessive congenital disorder ... syndrome · Rubinstein-Taybi syndrome · ectromelia (Sirenomelia) · VACTERL association ... http://en.wikipedia.org/wiki/Fountain_syndrome   en.wikipedia.org - summary Chromosome 16 - Genetics Home Reference Rubinstein-Taybi syndrome ... individuals also have many of the typical features of Rubinstein-Taybi syndrome, ... with severe Rubinstein-Taybi syndrome. ... http://ghr.nlm.nih.gov/chromosome=16   ghr.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Polydactyly Carpenter syndrome. Ellis-van Creveld syndrome (chondroectodermal dysplasia) ... Laurence-Moon-Biedl syndrome. Rubinstein-Taybi syndrome. Smith-Lemli-Opitz syndrome ... http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/003176.htm   www.nlm.nih.gov - summary PubMed 179-86 Rubinstein-Taybi syndrome (RSTS) is a well-known autosomal dominant ... Infant Male Rubinstein-Taybi Syndrome genetics pathology 200641020065172006617 ... http://www.ncbi.nlm.nih.gov/pubmed/16783566   www.ncbi.nlm.nih.gov - summary Kidneys and urinary system - Genetics Home Reference ... with facial and genital abnormalities see Robinow syndrome ... Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome. BWS see Beckwith-Wiedemann syndrome ... http://ghr.nlm.nih.gov/conditionCategory=kidneysandurinarysystem   ghr.nlm.nih.gov - summary Frontal bossing Crouzon syndrome. Hurler syndrome. Pfeiffer syndrome. Rubinstein-Taybi syndrome. Russell-Silver syndrome (Russell-Silver dwarf) ... http://adam.about.com/encyclopedia/003301.htm   adam.about.com - summary PMID 7630403 ... 6538 1995 Jul 27 Nature Rubinstein-Taybi syndrome caused by mutations in the ... Proteins genetics Pedigree Point Mutation Rubinstein-Taybi Syndrome genetics ... http://www.ncbi.nlm.nih.gov/pubmed/7630403   www.ncbi.nlm.nih.gov - summary Eyes and vision - Genetics Home Reference Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome ... Rubinstein-Taybi syndrome. SCAN2 see ataxia with oculomotor apraxia ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision   ghr.nlm.nih.gov - summary 2009 MeSH Tree Structures. C16 - Congenital, Hereditary, and Neonatal ... Rubinstein-Taybi Syndrome [C16.131.260.790] Sex Chromosome Disorders [C16.131.260.800] ... Rubinstein-Taybi Syndrome [C16.131.621.207.850] Funnel Chest [C16. ... http://www.nlm.nih.gov/mesh/2009/mesh_trees/C16.html   www.nlm.nih.gov - summary Mouth and teeth - Genetics Home Reference Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome. Buckley syndrome see Job syndrome ... Chondroectodermal Dysplasia see Ellis-van Creveld syndrome ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/mouthandteeth   ghr.nlm.nih.gov - summary Microcephaly Cornelia de Lange syndrome. Cri du chat syndrome. Down syndrome. Rubinstein-Taybi syndrome. Seckel syndrome. Smith-Lemli-Opitz syndrome. Trisomy 13. Trisomy 18 ... http://adam.about.com/encyclopedia/Microcephaly.htm   adam.about.com - summary Nail-patella syndrome - Wikipedia, the free encyclopedia ... syndrome · Rubinstein-Taybi syndrome · ectromelia ... Rubinstein-Taybi syndrome. Retrieved from "http://en.wikipedia.org/wiki/Nail-patella_syndrome" ... http://en.wikipedia.org/wiki/Nail-patella_syndrome   en.wikipedia.org - summary 180849 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180849   www.ncbi.nlm.nih.gov - summary 2008 MeSH Tree Structures. C05 - Musculoskeletal Diseases Rubinstein-Taybi Syndrome [C05.116.099.370.797] Synostosis [C05.116.099.370.894] ... Rubinstein-Taybi Syndrome [C05.660.207.850] Funnel Chest [C05.660.386] ... http://www.nlm.nih.gov/mesh/trees2008/C05.html   www.nlm.nih.gov - summary Rubinstein-Taybi Syndrome - Yahoo! Health ... information and sharing for parents of children with Rubinstein-Taybi syndrome. ... Health Home children Rubinstein-Taybi Syndrome. Elsewhere on Yahoo! ... http://health.yahoo.com/children-resources/rubinstein-taybi-...   health.yahoo.com - summary Cancer - Genetics Home Reference Gorlin syndrome. hereditary leiomyomatosis and renal ... Peutz-Jeghers syndrome. retinoblastoma. Rubinstein-Taybi syndrome. tuberous sclerosis. Werner syndrome ... http://ghr.nlm.nih.gov/conditionGroup=cancer   ghr.nlm.nih.gov - summary Rubinstein-Taybi syndrome and familial Mediterranean fever in a single ... Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: ... Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, short ... http://www.ncbi.nlm.nih.gov/pubmed/17052063   www.ncbi.nlm.nih.gov - summary CREBBP - References - Genetics Home Reference ... of patients with Rubinstein-Taybi syndrome (RSTS) and in ... Rubinstein-Taybi ... heterogeneity in Rubinstein-Taybi syndrome: mutations in both ... http://ghr.nlm.nih.gov/gene=crebbp/show/References   ghr.nlm.nih.gov - summary Patellar dislocation in Rubenstein-Taybi syndrome. ... 188-90. Patellar dislocation in Rubenstein-Taybi syndrome. ... This report describes 11 patients with Rubinstein-Taybi syndrome (RTS) and patellar dislocation. ... http://www.ncbi.nlm.nih.gov/pubmed/9382141   www.ncbi.nlm.nih.gov - summary Facial Injuries and Disorders - Genetics Home Reference Noonan syndrome. Pfeiffer syndrome. Robinow syndrome. Rubinstein-Taybi syndrome. Saethre-Chotzen syndrome. Simpson-Golabi-Behmel syndrome. Treacher Collins syndrome ... http://ghr.nlm.nih.gov/medlineplusTopic=facialinjuriesanddisorders   ghr.nlm.nih.gov - summary show more 1  2