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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. RUBINSTEIN-TAYBI SYNDROME
   An in depth look at rubinstein-taybi syndrome beginning with a definition, on to epidemiology, pathogenes Category Health Conditions and Diseases rubinstein-taybi syndromePediatric Database (PEDBASE); Discipline GEN; Last Updated 11/12/93rubinsteintaybi syndrome. DEFINITION A multiple congenital  
   http://www.icondata.com/health/pedbase/files/RUBINSTE.HTM

2. RTS
   A site devoted to the families and people diagnosed with this syndrome.Category Health Conditions and Diseases rubinstein-taybi syndromeA site devoted to the families and people diagnosed with RubinsteinTaybiSyndrome. What is rubinstein-taybi syndrome? If you are  
   http://www.rubinstein-taybi.org/
   
   Extractions: 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. What is Rubinstein-Taybi Syndrome?

3. 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.

4. Rubinstein-Taybi Syndrome
   Who to Contact RubinsteinTaybi Parent Group (RTPG) PO Box 146 Smith Center, Kansas, USA 66967 rubinstein-taybi syndrome. Who to Contact. Where to Go to Chat with Others  
   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."

5. The Contact A Family Directory - RUBINSTEIN TAYBI SYNDROME
   A desrciption of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural Category Health Conditions and Diseases rubinsteintaybi syndromeprinter friendly, RUBINSTEIN TAYBI SYNDROME, RUBINSTEIN TAYBI SYNDROMESUPPORT GROUP. Mrs Rosemary Robertson Rubinstein Taybi Syndrome  
   http://www.cafamily.org.uk/Direct/r36.html
   
   Extractions: printer friendly RUBINSTEIN TAYBI SYNDROME home more about us in your area conditions information ... how you can help search this site Rubinstein Taybi: 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. In about a quarter of affected people, a small part of chromosome 16 is missing (a deletion) on specialised chromosome testing. If the parents of a child with RTS have normal chromosomes, the chance of a second affected child is small, around 1%. If, however, an individual with RTS has children of their own, the chance for a similarly affected child may be as high as 50%. Pre-natal diagnosis

6. Special Child: Disorder Zone Archives - Rubinstein-Taybi Syndrome
   Read a description of the symptoms, diagnosis, and treatment of this multisystem genetic disorder and find links to more resources. rubinstein-taybi syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs  
   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

7. Rubinstein-Taybi Syndrome
   Associação Brasileira dos Familiares e Amigos dos Portadores da Síndrome de RubinsteinTaybi, www.artsbrasil.org.br (Brazilian RTS Association, Portuguese)  
   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

8. Rubinstein-taybi, Syndrome : Sites Et Documents Francophones
   Le mot clé RubinsteinTaybi, syndrome rubinstein-taybi syndrome est présent au sein de plusieurs arborescences du  
   http://www.chu-rouen.fr/ssf/pathol/rubinsteintaybisyndrome.html

9. Rubinstein-Taybi Syndrome - Kurt Baxter - RTS Our Pages
   I am also the reason that my mom and dad know about rubinsteintaybi syndrome. Mymom is on the phone alot talking about me and rubinstein-taybi syndrome.  
   http://www.rubinstein-taybi.org/our/Kurt/
   
   Extractions: Letter from Kurt Baxter Expressed by Lorrie Baxter for her son, Kurt Baxter. Well, I do have Rubinstein-Taybi syndrome and I do drive my family crazy sometimes, but I am usually a pretty good kid. I have to go to a lot of doctors but I'm really good for all of them and they are really nice to me. When the doctors have to do a test or some kind of procedure that hurts, my mom taught me a long time ago to relax and do deep breathing like she did when she had all of us. It still hurts but I do my breathing and tell them when they are suppose to be through! I'm very good for my pedodontist, orthodontist, and all the other doctors that I see. I don't have to be put to sleep for things that are considered "routine care" because i just behave and let them get it all over with! All of my doctors tell me how good I am for them and I know that my mom is very proud of me for being so good. She talks to me and always tells me everything that they are going to do so that there are no surprises. I hate surprises!! I don't know what all the fuss is about. I hear mom talking about me and sometimes I like to get into things when she's busy talking on the phone. I also like to get out my favorite videos and watch them when she's busy. my favorite thing to do is listen or read with my tapes and books. I love music and have won out 3 Fisher Price tape players since I was 3 years old. I'm on my 4th tape player now! I'm just a busy kid that likes to do "my own thing". If you are ever in our area I wish you'd stop by and visit. It'd be nice seeing Mom without that phone thing stuck to her ear and I like seeing my "brothers and sisters" that belong to our Rubinstein-Taybi family! God bless us all and keep my angel safe beside me.

10. 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?

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

12. Rubinstein-Taybi Syndrome
    Disease rubinsteintaybi syndrome. OMIM number 180849  
    http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/637.html
    
    Extractions: Disease : Rubinstein-Taybi syndrome OMIM number : Body System : Miscellaneous disorder Type : Inheritance pattern : AD Incidence/prevalence : P Population surveyed : Netherlands Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : D Reference : Hennekam RCM, Stevens CA, Van de Kamp JJP. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet 1990;Suppl 6:56-64. Comments :

13. Rubinstein-Taybi Syndrome
    Disease rubinsteintaybi syndrome. OMIM number 180849  
    http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/638.html
    
    Extractions: Disease : Rubinstein-Taybi syndrome OMIM number : Body System : Miscellaneous disorder Type : Inheritance pattern : AD Incidence/prevalence : I Population surveyed : Netherlands Date of survey : From 1967 to 1985 Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : I Reference : Hennekam RCM, Stevens CA, van de Kaus JJP. Etiology and recurrence risk in Rubinsten-Taybi syndrome. Am J Med Genet 1990;Suppl 6: 56-64. Comments :

14. Special Child: Disorder Zone Archives
    Lissencephaly Mitochondrial Myopathy Muscular Dystrophy Noonan Syndrome PraderWilliSyndrome Rett Syndrome rubinstein-taybi syndrome Sanfilippo Syndrome Septo  
    http://www.specialchild.com/disorder.html
    
    Extractions: Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges

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

16. MEDLINEplus Medical Encyclopedia: Rubinstein-Taybi Syndrome
    rubinsteintaybi syndrome. Causes, incidence, and risk factors Return to top Rubinstein-Taybisyndrome is a rare condition, affecting about 1 in 125,000 people.  
    http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm
    
    Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Polydactyly - an infant's hand Alternative names Return to top Rubinstein syndrome Definition Return to top 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 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

17. Rubinstein-Taybi Syndrome (RSTS, RTS)
    Syndromes. View the Full Record Syndrome, rubinsteintaybi syndrome (RSTS,RTS). Synonyms, Rubinstein syndrome. broad thumb-hallux syndrome.  
    http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome565.html
    
    Extractions: 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.

18. 1Up Health > Rubinstein-Taybi Syndrome > Causes, Incidence, And Risk Factors Of
    1Up Health Diseases Conditions RubinsteinTaybisyndrome Causes, Incidence, and Risk Factors.  
    http://www.1uphealth.com/health/rubinstein_taybi_syndrome_info.html
    
    Extractions: 1Up Health Rubinstein-Taybi syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Rubinstein-Taybi syndrome Information Rubinstein-Taybi syndrome Causes, Incidence, and Risk Factors Alternative names : Rubinstein syndrome Definition : A genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. 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

19. 1Up Health > Rubinstein-Taybi Syndrome (Rubinstein Syndrome) Information
    1Up Health Diseases Conditions rubinsteintaybi syndrome. - Diseases Conditions. rubinstein-taybi syndrome Information. Guide. Alternative names  
    http://www.1uphealth.com/health/rubinstein_taybi_syndrome.html
    
    Extractions: 1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Rubinstein-Taybi syndrome Information Guide Alternative names : Rubinstein syndrome Definition : A genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

20. Rubinstein-Taybi Syndrome International Family Conference, Cincinnati Childrens
    International Family Conference on rubinsteintaybi syndrome Date(s) July 10 -13, 2003 Type Conference Location Cincinnati Children's Hospital Medical  
    http://www.cincinnatichildrens.org/About_us/Events/Conferences/rubinstein_taybi.
    
    Extractions: The Rubinstein-Taybi Syndrome (RTS) Program of the Division of Developmental Disabilities at Cincinnati Children's Hospital Medical Center, in cooperation with the USA-RTS Parent Support Group, convenes the third international conference on Rubinstein-Taybi Syndrome. The goals of the conference are to communicate "best practice" treatment strategies for persons with Rubinstein-Taybi Syndrome, provide a forum for networking by interested stakeholders, to report results of current studies and to challenge the research community to undertake additional efforts to improve the quality of life of persons with Rubinstein-Taybi Syndrome.

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