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Rubinstein-taybi Syndrome:     more detail

Dysostoses: Syndrome D'apert, Syndrome de Rubinstein-Taybi, Syndrome Oro-Facio-Digital Type 1, Syndrome de Greig, Syndrome de Pfeiffer (French Edition) Rubinstein-Taybi syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Java, MS Solis, 2005 Rubinstein-Taybi Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Cornelia de lange syndrome / maple syrup urine disease / Rubinstein-Taybi syndrome: behavior issues, activities, and conclusions.: An article from: Palaestra by Robert C. Weber, 2006-03-22 Consanguineous Marriages in the American Population by George B. Louis Arner, 2010-08-10

lists with details

1. RTS - Rubinstein-Taybi Syndrome
   A site devoted to the families and people diagnosed with rubinsteintaybi syndrome . rubinstein-taybi syndrome Organizations around the world.  
   http://www.rubinstein-taybi.org/
   
   Extractions: var mode = "php"; var theURL = "www.rubinstein-taybi.org/cgi-bin/"; var nonCGI = "www.rubinstein-taybi.org/as2/"; A site devoted to the families and people diagnosed with Rubinstein-Taybi Syndrome Brazilian RTS Association Canada RTS Association France RTS Association German RTS Association ... Guestbook Last Updated: Information features information about organizations around the world concerning RTS, Family Database, Professional Database, a chat area, a Resource database, information on how to join the email list, information on how to join the RTS Family site. It also has information concerning Parents Groups including Lorrie Baxter of the USA Parent Group.

2. Rubinstein Taybi Syndrome
   An article about rubinsteintaybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources.  
   http://www.healthwise.org/kbase/nord/nord461.htm
   
   Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that typically affects many organ system of the body. The group of physical findings and symptoms associated with this syndrome include distinctive abnormalities of the fingers and toes; developmental delays, growth retardation, speech delays, and/or mental retardation; characteristic abnormalities of the head and face (craniofacial dysmorphism); breathing and swallowing difficulties; skeletal malformations; and/or urogenital abnormalities. In many cases, the skin, heart, and/or respiratory system may also be affected. Physical findings and symptoms associated with Rubinstein-Taybi syndrome vary greatly from case to case.

3. Rubinstein-Taybi Syndrome
   RTS Pamphlet. rubinsteintaybi syndrome A Book For Families, CAStevens and JCCarey. German, Spanish, Dutch, and Portguese information  
   http://www.kumc.edu/gec/support/rubinste.html
   
   Extractions: Rubinstein-Taybi syndrome Associação Brasileira dos Familiares e Amigos dos Portadores da Síndrome de Rubinstein-Taybi, www.artsbrasil.org.br (Brazilian RTS Association, Portuguese) Rubinstein-taybi Syndroom, www.rtsyndrome.nl (Netherland RTS Group, Dutch), (English version or Nederlandse versie) Also See: To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments

4. EMedicine - Rubinstein-Taybi Syndrome : Article By Djordjije Karadaglic, MD, DSc
   rubinsteintaybi syndrome. Caption Picture 2. Prominent beaked nose, low-set ears, and broad thumbs in a child with rubinstein-taybi syndrome.  
   http://www.emedicine.com/derm/topic711.htm
   
   Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Last Updated: July 15, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: RTS, broad thumb-hallux syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Djordjije Karadaglic, MD, DSc , President of Yugoslav Association of Dermatology and Venereology, Professor, Department of Dermatology and Venereology, Military Medical Academy of Belgrade, Serbia and Montenegro Coauthor(s): Ljubomir Stojanov, MD, PhD , Director of Pediatric Clinic, Mother and Child Health Care Institute, Lecturer, Head, Department of Metabolic and Genetic, University of Belgrade School of Medicine, Serbia and Montenegro; Zeljko P Mijuskovic, MD , Consulting Staff, Department of Dermatology and Venereology, Military Medical Academy, Belgrade Djordjije Karadaglic, MD, DSc, is a member of the following medical societies:

5. EMedicine - Rubinstein-Taybi Syndrome : Article By Sulagna C Saitta, MD, PhD
   rubinsteintaybi syndrome. Last Updated December 12, 2003, FULL DISCLAIMER. rubinstein-taybi syndrome excerpt. © Copyright 2004, eMedicine.com, Inc.  
   http://www.emedicine.com/ped/topic2026.htm
   
   Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: RSTS, Rubinstein syndrome, distinctive facies, prominent nose, mental retardation, broad thumbs, broad great toes, OMIM #180849, growth retardation, feeding difficulties, failure to thrive, respiratory infections, congenital heart disease, developmental delay AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Sulagna C Saitta, MD, PhD , Fellow, Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia Coauthor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia Sulagna C Saitta, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Human Genetics Editor(s): Elaine H Zackai, MD

6. Rubinstein-Taybi Syndrome / Family Village
   Who to Contact. Where to Go to Chat with Others. Learn More About It. Web Sites. Search Google for "rubinsteintaybi syndrome" Who to Contact. Rubinstein-Taybi Parent Group (RTPG) PO Box 146. Smith  
   http://www.familyvillage.wisc.edu/lib_rub.htm
   
   Extractions: The Rubinstein-Taybi Parent Group's mission is to provide a support network for parents of children with RTS, to educate and support families affected by the syndrome, provide basis information to the public, and encourage research of the disorder. RTPG is in the process of organizing regional support groups, and does parent-to-parent matching either geographically or by similar condition or diagnosis. The Parent Group publishes a newsletter, Roots , periodically and at no cost, and a brochure that has basic information about RTS and addresses for important contacts. They also offer a new parent packet that includes, pamphlet, information sheets, a book, group contact list and group booklet. They have a bibliography of books and articles from various medical journals and a booklet, "Rubinstein-Taybi Syndrome - A Book for Families."

7. Special Child: Disorder Zone Archives - Rubinstein-Taybi Syndrome
   Disorder Zone. Archives. rubinsteintaybi 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.  
   http://www.specialchild.com/archives/dz-026.html
   
   Extractions: 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

8. Rubinstein-Taybi Syndrome
   National network. 350 member families. Founded 1984. Mutual support, information and sharing for parents of children with rubinsteintaybi syndrome. Information, phone contact, parent contact list  
   http://www.bchealthguide.org/kbase/shc/shc29rts.htm
   
   Extractions: document.write(''); var hwPrint=1; var hwDocHWID="shc29rts"; var hwDocTitle="Rubinstein-Taybi Syndrome"; var hwRank="1"; var hwSectionHWID="shc29rts"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; National network. 350 member families. Founded 1984. The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

9. ► Rubinstein-Taybi Syndrome
   A medical encycopedia article on the topic rubinstein-taybi syndrome Toggle English / Spanish. rubinstein-taybi syndrome. Overview. Symptoms. Treatment rubinstein-taybi syndrome is a rare  
   http://www.umm.edu/ency/article/001249.htm
   
   Extractions: Causes, incidence, and risk factors: Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. The proof of this disease being genetic was shown by discovery of mutations in, or loss of, a gene (CREBB) on chromosome 16 that rarely is inherited in an autosomal dominant manner. However, most cases are not inherited, rather they are sporadic and likely due to a new mutation affecting the patient, but not his or her parents. The classic finding is broad thumbs and great toes, but the condition is manifested by many other findings including: short stature , a peculiar face, low-set ears , port-wine-stain, undescended testicles in the male, and downward slant of the eyes.

10. Canada
    A site devoted to the families and people diagnosed with rubinsteintaybi syndrome. RTS Canada. What is RTS Canada? Welcome to RTS  
    http://www.rubinstein-taybi.org/Resources/Organizations/Canada/canada.html

11. Schools For Special Friends
    The primary mission of the Special Friends Foundation is to enable families to understand quickly what rubinsteintaybi syndrome (RTS) is all about and what resources are available.  
    http://www.specialfriends.org/schoolsystemin.html
    
    Extractions: At age three, your child begins to receive services through the school system. The school system is responsible for educating your child. And every school system interprets this differently. There are laws that state specific criteria that must be followed, and then the remaining is decided by the school system. There are excellent school systems that cater to children with disabilities and work closely with the families and there are school systems that make you feel like you have to fight for everything your child needs. Hopefully, this website and the websites http://www.familyvillage.wisc.edu and http://www.nichcy.org will help you understand what the school system’s responsibilities are and how to work with the school system. Top Top You and your child will participate in two transition periods in the school system. The first transition happens at age three and the second transition happens when your child graduates from high school. These transitions are directed under the Individuals with Disabilities Education Act (IDEA) Part H and Part B. When your child turns three years of age a transition takes places from early intervention to the school system. If your child was not receiving therapy through early intervention, then you should arrange for an evaluation by the school district. Your child in now covered under the law IDEA Part B. Your school system is now responsible for delivering services. Under Part B your child now becomes the focus of services, the family’s needs are not as pertinent as they were under Part H. The goals and the objectives to achieve your child’s goals are found in the Individualized Education Plan (IEP). The services are based on the educational needs, that is, what services are needed to help your child learn and participate in the school setting?

12. OMIM - RUBINSTEIN-TAYBI SYNDROME; RSTS
    http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180849

13. Entrez PubMed
    here to read FISH studies in 45 patients with rubinsteintaybi syndrome deletions associated with polysplenia, hypoplastic left heart and death in infancy.  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

14. AllRefer Health - Rubinstein-Taybi Syndrome (Rubinstein Syndrome)
    rubinsteintaybi syndrome. Overview, Causes, Risk Factors. rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people.  
    http://health.allrefer.com/health/rubinstein-taybi-syndrome-info.html
    
    Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Polydactyly - An Infant's Hand 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.

15. AllRefer Health - Rubinstein-Taybi Syndrome Treatment (Rubinstein Syndrome)
    You are here AllRefer.com Health Diseases Conditions rubinsteintaybi syndrome Treatment of rubinstein-taybi syndrome. rubinstein-taybi syndrome.  
    http://health.allrefer.com/health/rubinstein-taybi-syndrome-treatment.html
    
    Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Rubinstein Syndrome Treatment There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Treatment may not be necessary in all cases.

16. Rubinstein-Taybi Syndrome - Information / Diagnosis / Treatment / Prevention
    home rare disorders rubinsteintaybi syndrome rubinstein-taybi syndrome. Information • Diagnosis • Treatment • Prevention.  
    http://www.healthcyclopedia.com/rare-disorders/rubinstein-taybi-syndrome.html

17. HONselect - Rubinstein-Taybi Syndrome
    English rubinsteintaybi syndrome, - Broad Thumb-Hallux Syndrome - Rubinstein Syndrome - Broad Thumb Hallux Syndrome - Broad Thumb-Hallux Syndromes  
    http://www.hon.ch/HONselect/RareDiseases/C05.116.099.370.797.html

18. Arts - Associação Rubinstein-taybi Syndrome
    Translate this page O conteúdo deste site não pode ser reproduzido sem prévia autorização de ARTS-ASSOCIAÇO rubinstein-taybi syndrome.  
    http://www.artsbrasil.org.br/fase2/principal.asp

19. Rubinstein-Taybi Syndrome (RTS)
    HOME. Rubinstein (Taybi) Syndrome (RTS). RUBINSTEIN TAYBI SYNDROME; rubinsteintaybi syndrome a girl with a history of neuroblastoma and premature thelarche;  
    http://www.bdid.com/rts.htm

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

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