21. HONselect - Rubinstein-Taybi Syndrome Rubinstein Taybi Syndrome Syndrome, Broad Thumb-Hallux. Français, Syndrome deRubinstein-Taybi, - Rubinstein-Taybi, syndrome http://www.hon.ch/HONselect/RareDiseases/C05.116.099.370.797.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Rubinstein-Taybi Syndrome - Broad Thumb-Hallux Syndrome - Rubinstein Syndrome - Broad Thumb Hallux Syndrome - Broad Thumb-Hallux Syndromes - Rubinstein Taybi Syndrome - Syndrome, Broad Thumb-Hallux Français: Syndrome de Rubinstein-Taybi - Rubinstein-Taybi, syndrome - Nanisme de Rubinstein-Taybi Deutsch: Rubinstein-Taybi-Syndrom Español: Síndrome de Rubinstein-Taybi - Síndrome de Pulgar y Hallux Ancho Português: Síndrome de Rubinstein-Taybi - Síndrome do Grande Artelho-Polegar Largo HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch Yes Español No Português Yes Home About us Site map ... Contact http://www.hon.ch/HONselect/RareDiseases/C05.116.099.370.797.html Last modified: Wed May 18 2005

22. Rubinstein-Taybi Syndrome - Broad Thumb-Hallux Syndrome - Information Page With A chromosomal disorder characterized by A HREF= /cgibin/HONselect?browse+C10.5 http://www.hon.ch/HONselect/RareDiseases/EN/C05.116.099.370.797.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Rubinstein-Taybi Syndrome": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Rubinstein-Taybi Syndrome 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). Synonym(s): Broad Thumb-Hallux Syndrome / Rubinstein Syndrome / Broad Thumb Hallux Syndrome / Broad Thumb-Hallux Syndromes / See also: Mental Retardation Browse New search Web resources for "Rubinstein-Taybi Syndrome" English French German Portuguese = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: HONcode - eMedicine - Rubinstein-Taybi Syndrome : Article by Zeljko P Mijuskovic, MD

23. Rubinstein-Taybi Syndrome (RTS) RUBINSTEIN TAYBI SYNDROME rubinsteintaybi syndrome a girl with a history ofneuroblastoma and premature thelarche Associação Rubinstein-Taybi Síndrome http://www.bdid.com/rts.htm

HOME Rubinstein (Taybi) Syndrome (RTS) RUBINSTEIN TAYBI SYNDROME Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome with hepatoblastoma ... HOME

24. MedlinePlus Medical Encyclopedia: Rubinstein-Taybi Syndrome Rubinstein syndrome. Definition Return to top. rubinsteintaybi syndrome is agenetic disease characterized by mental deficiency, broad thumbs and toes, http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Rubinstein-Taybi syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Polydactyly - an infant's hand Alternative names Return to top Rubinstein syndrome Definition Return to top Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features. Causes, incidence, and risk factors Return to top 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

25. Rubinstein-Taybi Syndrome (RSTS, RTS) Syndrome, rubinsteintaybi syndrome (RSTS, RTS). Synonyms, Rubinstein syndrome.broad thumb-hallux syndrome. broad thumb-mental retardation syndrome http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome565.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Rubinstein-Taybi syndrome (RSTS, RTS) Synonyms Rubinstein syndrome broad thumb-hallux syndrome broad thumb-mental retardation syndrome Summary A syndrome of broad thumbs and halluces, typical dysmorphic facies, delayed mental and physical development, pulmonary stenosis, large foramen magnum, vertebral and sternal deformities, dermatoglyphic changes, and other anomalies. Major Features Head and neck: Microcephaly, prominent forehead, large foramen magnum, and micrognathia. Characteristic smile and grimacing in most cases. Ears: Frequent middle ear infections. Eyes: Strabismus, cataracts, coloboma, long eyelashes, blepharoptosis, juvenile glaucoma, tear duct obstruction, refractive errors, and downslanting palpebral fissures. Nose: Broad nasal bridge, beaked nose with the nasal septum extending, below the alae, and epicanthal folds. Mouth and oral structures: Highly arched palate and less frequently bifid uvula, cleft palate, bifid tongue, macroglossia, short lingual frenum, thin upper lip, and natal teeth. Thorax: Pectus excavatum, sternal abnormalities, and rib defects.

26. Special Child: Disorder Zone Archives - Rubinstein-Taybi Syndrome rubinsteintaybi syndrome (RTS) is a genetic multi-system disorder characterized rubinstein-taybi syndrome E-mail List - To subscribe, send a message to http://www.specialchild.com/archives/dz-026.html

Disorder Zone Archives Rubinstein-Taybi Syndrome Brianna Zimmerman Introduction Rubinstein-Taybi syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs and great toes, and mental retardation. It was first described in 1957 and was identified as a recognizable syndrome in 1963 by Jack Rubinstein and Hooshang Taybi. In many cases, RTS is caused by a deletion or mutation in the short arm (p) of chromosome 16. RTS is found equally in both males and females and is considered to be a rare syndrome, occurring in 1 out of every 100,000 to 300,000 live births. There is, however, an increase in the number of cases being reported each year, with over 600 currently reported in medical literature. Most cases of RTS occur randomly, or for no apparent reason. Features and Characteristics There are many characteristics associated with RTS. Not every individual has all the characteristics, however, the following is a list of traits that have been reported: Broad thumbs and/or toes (sometimes angulated) Mental retardation (from mild to severe) Beaked nose Short stature (delayed bone age) Broad nasal bridge Malformed ears High arched palate Widely spaced eyes Downward slant of eyes Extra fold of skin on either side of the nose Strabismus Droopy eyelids Heavy or highly arched eyebrows Small head (microcephaly) Small lower jaw Flat red birthmark on forehead Hyperextensible joints Small tilted pelvis Hairiness Undescended testicles in males Feeding difficulties

27. GeneReviews: Rubinstein-Taybi Syndrome Your browser does not support HTML frames so you must view RubinsteinTaybiSyndrome in a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=rsts

28. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome - Site for families of children with the congenital rubinstein-taybi syndrome - Who to Contact Rubinstein-Taybi Parent Group http://www.health-nexus.com/rubinstein-taybi_syndrome.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Site for families of children with the congenital disorder offers articles, poems, personal stories, and links to support groups. ... A site devoted to the families and people diagnosed with Rubinstein-Taybi Syndrome ... RUBINSTEIN-TAYBI SYNDROME Pediatric Database (PEDBASE); Discipline: GEN; Last Updated: 11/12/93 RUBINSTEIN-TAYBI SYNDROME. DEFINITION: A multiple congenital ... Rubinstein-Taybi Syndrome Who to Contact Rubinstein-Taybi Parent Group (RTPG) PO Box 146 Smith Center, Kansas, USA 66967 HealthWise Knowledgebase An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. 1Up Health - Rubinstein-Taybi Syndrome Information Peruse the diagnosis, risks, prognosis, causes, signs, prevention, symptoms, complications, treatment, and support groups of the genetic disease, aka Rubinstein syndrome.

29. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome is a genetic disease characterized by mental deficiency,broad thumbs and toes, , and characteristic facial features. http://adam.about.com/encyclopedia/001249.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Rubinstein-Taybi syndrome Overview Symptoms Treatment Prevention 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.

30. Rubinstein-Taybi Syndrome Medical Information rubinsteintaybi syndrome Information from Drugs.com. http://www.drugs.com/enc/rubinstein_taybi_syndrome.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Rubinstein-Taybi syndrome Injury Disease Nutrition Poison ... 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 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.

31. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome is a genetic disease characterized by mental rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125000 http://www.shands.org/health/information/article/001249.htm

Disease Injury Nutrition Poison ... 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

32. Rubinstein-Taybi Syndrome (broad Thumb-hallux Syndrome) rubinsteintaybi syndrome is a rare genodermatosis with characteristic rubinstein-taybi syndrome (RTS) was initially reported by Michail et al. in 1957 http://dermatology.cdlib.org/103/NYU/case_presentations/102103n2.html

DOJ Contents Rubinstein-Taybi syndrome (broad thumb-hallux syndrome) Sherry H Hsiung MD Dermatology Online Journal 10 (3): 2 From the Ronald O. Perelman Department of Dermatology, New York University Abstract Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation. Dermatologic manifestations include capillary malformations, keloid formation, and pilomatricomas. Systemic features may involve the cardiac, audiologic, ophthalmologic, endocrine, neurologic, and respiratory systems. The syndrome is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP). Clinical synopsis History. Physical Examination. Figure 1 Figure 2 Diagnosis. Comment Rubinstein-Taybi syndrome (RTS) was initially reported by Michail et al. in 1957 as the broad thumb-hallux syndrome and then was described by Rubinstein and Taybi in 1963 [ ] in children with broad thumbs and toes with facial abnormalities and short stature. Since that time, there have been over 250 cases documented in the literature. It has been estimated that 1 per 300-500 institutionalized persons with mental retardation over age 5 have the syndrome. Male and female individuals are affected at equal rates [ Typical facial features include downward slanting palpebral fissures toward the ears, hypertelorism, long eyelashes, high-arched eyebrows, prominent nose, and malpositioned ears with dysplastic helices. In addition, characteristic skeletal findings are broad, short, terminal phalanges of the thumbs and halluces, and postnatal growth retardation with head circumference below the fiftieth percentile. Dermatologic features include capillary malformations in approximately 50 percent of patients and higher incidence of keloid formation [

33. Rubinstein-Taybi Syndrome - Wikipedia, The Free Encyclopedia rubinsteintaybi syndrome (also known as Broad Thumb-Hallux syndrome) is a RTS - rubinstein-taybi syndrome - A site devoted to the families and people http://en.wikipedia.org/wiki/Rubinstein-Taybi_syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Rubinstein-Taybi syndrome From Wikipedia, the free encyclopedia. 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. Contents Features of Rubinstein-Taybi syndrome Genetics References External Links ... edit Features of Rubinstein-Taybi syndrome An isolated case was described in 1957 by Michail and Matsoukas. In 1963 Rubinstein and Taybi described a larger series of cases. Typical features of the disorder include: Broad thumbs and broad first toes Mental retardation Retarded height, bone age, small head

34. Rubinstein-Taybi Syndrome - Wikipedia, The Free Encyclopedia (Redirected from RubensteinTaybi syndrome). rubinstein-taybi syndrome (alsoknown as Broad Thumb-Hallux syndrome) is a condition characterized by short http://en.wikipedia.org/wiki/Rubenstein-Taybi_syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Rubinstein-Taybi syndrome From Wikipedia, the free encyclopedia. (Redirected from Rubenstein-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. 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. Contents Features of Rubinstein-Taybi syndrome Genetics References External Links ... edit Features of Rubinstein-Taybi syndrome An isolated case was described in 1957 by Michail and Matsoukas. In 1963 Rubinstein and Taybi described a larger series of cases. Typical features of the disorder include: Broad thumbs and broad first toes Mental retardation Retarded height, bone age, small head

35. Rubinstein-Taybi Syndrome National network. 350 member families. Founded 1984. Mutual support, information sharing for parents http://my.webmd.com/hw/health_guide_atoz/shc29rts.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 ... Rubinstein-Taybi Parent Group Rubinstein-Taybi Syndrome Rubinstein-Taybi Parent Group National network. 350 member families. Founded 1984. WRITE: Rubinstein-Taybi Parent Group c/o Garry and Lorrie Baxter P.O. Box 146 Smith Center, KS 66967 CALL: 1-888-447-2989 E-MAIL: lbaxter@ruraltel.net WEBSITE: http://www.rubinstein-taybi.org VERIFIED: 5/13/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

36. IRSC - Rare Disorders, Rubinstein-Taybi Syndrome The Internet Resources for Special Children (IRSC) Global disABILITY resourceis dedicated to communicating information relating to the needs of children http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

37. IRSC - Rare Disorders, Rubinstein-Taybi Syndrome The Internet Resources for Special Children (IRSC) Global disABILITY resourceis dedicated to communicating information relating to the needs of children http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

38. Rubinstein Taybi Syndrome rubinsteintaybi syndrome is a rare genetic multisystem disorder that affectsmany organ systems of the body. The group of findings (constellation) http://www.bchealthguide.org/kbase/nord/nord461.htm

var hwPrint=1;var hwDocHWID="nord461";var hwDocTitle="Rubinstein Taybi Syndrome";var hwRank="1";var hwSectionHWID="nord461-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Rubinstein Taybi Syndrome Important It is possible that the main title of the report Rubinstein Taybi 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 Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein syndrome RSTS Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome Disorder Subdivisions None General Discussion Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240 USA Tel: 2145709099 Fax: 2145708811 Tel: 8005353643 Email: csmith@ccakids.com Internet: http://www.ccakids.com FACES: The National Craniofacial Association P.O. Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: faces@faces-cranio.org

39. Rubinstein-Taybi Syndrome - [Support Group] This information is provided as a resource and does not constitute an endorsementfor any group. It is the responsibility of the reader to decide whether a http://www.bchealthguide.org/kbase/shc/shc29rts.htm

var hwPrint=1;var hwDocHWID="shc29rts";var hwDocTitle="Rubinstein-Taybi Syndrome";var hwRank="1";var hwSectionHWID="shc29rts-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Rubinstein-Taybi Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Rubinstein-Taybi Parent Group National network. 350 member families. Founded 1984. WRITE: Rubinstein-Taybi Parent Group c/o Garry and Lorrie Baxter P.O. Box 146 Smith Center, KS 66967 CALL: 1-888-447-2989 E-MAIL: lbaxter@ruraltel.net WEBSITE: http://www.rubinstein-taybi.org VERIFIED: 5/13/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

40. FAQs/Rubinstein-Taybi Syndrome - AAPOS rubinsteintaybi syndrome (RTS) is a genetic multi-system disorder characterizedby facial What are the treatment options for rubinstein-taybi syndrome? http://www.aapos.org/pubresources/FAQs-Rubinstein-Taybi Syndrome.htm

SEARCH SITE document.write('') AAPOS Public Resources  » FAQs/Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome What is Rubinstein-Taybi Syndrome? Rubinstein-Taybi syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs and great toes, and mental retardation. It was first described in 1957 and was identified as a recognizable syndrome in 1963 by Jack Rubinstein and Hooshang Taybi. How is RTS diagnosed? The diagnosis of RTS can be made following a complete clinical exam (including X-rays of the hands and feet for bone malformations, a CT-scan or MRI for characteristic brain malformations, an EEG for electrical activities of the brain, and an EKG or echocardiogram for congenital heart defects). Furthermore, RTS may be confirmed by FISH studies, which could possibly detect a deletion or mutation in chromosome 16p. While some children with more severe characteristics can be diagnosed at birth, others who are more mildly affected (lacking severe medical problems, extreme physical characteristics, or moderate to severe mental retardation) may not be diagnosed until adolescence. What are the ocular signs of RTS?

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 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20