41. The Genetics Of Joubert Syndrome The Genetics of joubert syndrome. Contact us. What is joubert syndrome? joubert syndrome(JS) is a rare genetic developmental disorder, first identified in 1969. http://gleesongenetics.ucsd.edu/js.htm

The Genetics of Joubert Syndrome Contact us Home What is Joubert Syndrome? Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain are underdeveloped or malformed. These areas (notably the cerebellar vermis and brainstem) include those affecting the centers for balance and coordination. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Features that can be associated with JS: Difficulty breathing, including: a) Irregular pattern b) Panting/labored breathing c) Apnea (breathing stops momentarily) Difficulty with balance (ataxia) Limpness/lack of muscle tone or hypotonia Eye movement abnormalities Head/skull/brain malformations including a) Encephalocele-a hole in the skull, such that it does not fully cover the brain b) Meningocele-a hole in the membrane around the brain c) Hydrocephalus-too much fluid around the brain (also referred to as water on the brain) Kidney problems including a) Cysts (including polycystic kidney disease) b) Nephronopthesis c) Failure Vision problems including blindness Liver problems Polydactyly (more than five fingers or toes per limb) Tongue tumors Pituitary abnormality Austitic-like behavior Click here more information about other syndromes related to JS.

42. The Genetics Of Joubert Syndrome The Genetics of joubert syndrome. Contact us. Home. Treating Patientswith joubert syndrome. Existing treatment options are limited. http://gleesongenetics.ucsd.edu/treatment.htm

The Genetics of Joubert Syndrome Contact us Treating Patients with Joubert Syndrome Existing treatment options are limited. Physical and occupational therapy are recommended. For patients with breathing problems, medications (e.g. Theophylline) are available. Apnea monitor are recommended for patients experiencing breathing difficulties. If apnea is left untreated and unmonitored it can be a serious cause of morbidity and mortality. Making an accurate diagnosis can help prevent complications arising from conditions associated with JS Click on this link for a letter to healthcare professionals with more details. v The State of Research v Letter to Healthcare Providers v Call for Patients v Study Information v Study Forms

43. Health Library - joubert syndrome. Cerebellarparenchymal Disorder IV; CerebelloparenchymalDisorder IV Familial; Chorireninal Colobomajoubert syndrome; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

44. Joubert Syndrome: Report Of A Neonatal Case joubert syndrome; Newborn. http://www.pulsus.com/Paeds/08_08/arkc_ed.htm

forgot your password? CASE REPORTS October 2003, Volume 8, Number 8: Joubert syndrome: Report of a neonatal case M Akcakus, T Gunes, S Kumandas, S Kurtoglu, A Coskun Key Words: Abnormal respiratory pattern; Ataxia; Cerebellar hypoplasia; Joubert syndrome; Newborn Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail Pdf Format - Registered users can view the complete article in Pdf format. REGISTERED USERS LOGIN REGISTER NOW! Le syndrome de Joubert : Compte rendu d’un cas néonatal Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail

45. Genetic Disorders, Joubert Syndrome Submit Your Site to the joubert syndrome category. Sponsored joubert syndromeSites. Submit Your Site to the joubert syndrome category. Sponsored Results. http://www.iseekhealth.com/joubert_syndrome-1593.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Genetic Disorders ... Joubert Syndrome More Joubert Syndrome Categories: Submit Your Site to the Joubert Syndrome category Sponsored Joubert Syndrome Sites Cystic Fibrosis Book Store At WellnessBooks.com Comprehensive source to books on Cystic Fibrosis. Includes community boards and chat, book reviews and online ordering. Buy Genetic Disorders Products We link to merchants which offer Genetic Disorders products for sale. Online Doctors - Ask Us Now! Kasamba's variety of health experts- including Doctors, Specialists, Herbalists, Nurses and more- offer real help for affordable consultation fees- live via chat or e-mail! Buy Genetics Books At Amazon.com and Save! Would you like to save on Genetics Books at Amazon and other stores? Compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! Joubert Syndrome - Information sheet compiled by NINDS. Joubert Syndrome Foundation - Organization, conferences and contact details. FAQs about the disease, information center and resources.

46. Joubert Syndrome Ailment Name joubert syndrome. Join this Community get help by emailingand chatting to others, and sharing information and experiences, http://www.thirdaid.com/conditions/Joubert_Syndrome.htm

Home Your Registration Details Ailment Name: Joubert Syndrome Join this Community Registration (Details given below are only for use in the Community and under no circumstances is your information ever provided to other 3rd parties. Required Information How would you like to be known? Birthdate: document.RegistrationForm.birthdate_day.options[birthdate_current_Day].selected=true; January February March April May June July August September October November December document.RegistrationForm.birthdate_month.options[birthdate_current_Month].selected=true; E-mail: (confidential) Please note: If you enter your email address incorrectly you will not be able to access this site. You are a ... Sufferer Carer Doctor For how long? year(s) State/Province/City: Country: Select a Country Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Antigua And Barbuda Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central African Republic Chad Chile China Christmas Island Cocos (Keeling) Islands Columbia Comoros Congo Cook Islands Costa Rica Cote DnullIvoire (Ivory Coast) Croatia (Hrvatska) Cuba Cyprus Czech Republic D.P.R. Korea

47. Conditions And Diseases - Joubert Syndrome Top Links joubert syndrome Web Site Links. joubert syndrome Foundation Organization,conferences and contact details. FAQs about the disease http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Joubert Syndrome Web Site Links Joubert Syndrome Foundation Organization, conferences and contact details. FAQs about the disease, information center and resources. Joubert Syndrome Information sheet compiled by NINDS. TheFetus.net A detailed look at joubert syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. National Library of Medicine: Joubert syndrome Synonyms, a summary and a list of major features for this disorder. Readers Digest Health A brief discussion about joubert syndrome, its alternate names and further resources. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative.

48. Joubert Syndrome joubert syndrome. Self Help Clearinghouse. joubert syndrome Foundation.International network. 7 chapters. Founded 1992.Mutual http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29jou

49. Genetic Disorders: Joubert Syndrome Genetic Disorders joubert syndrome. joubert syndrome. Information sheetcompiled by NINDS. joubert syndrome Foundation. Organization http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Jo

Genetic Disorders: Joubert Syndrome Home Health Conditions and Diseases Genetic Disorders : Joubert Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings Joubert Syndrome Information sheet compiled by NINDS. Joubert Syndrome Foundation Organization, conferences and contact details. FAQs about the disease, information center and resources. National Library of Medicine: Joubert syndrome Synonyms, a summary and a list of major features for this disorder. Readers Digest Health A brief discussion about joubert syndrome, its alternate names and further resources. TheFetus.net A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PureDirectory.com uses a modified version of the Open Directory.

50. Joubert Syndrome joubert syndrome. joubert syndrome is a rare, genetic disorder that affectsthe area of the brain that controls balance and coordination. http://brandt.kurowski.net/projects/lsa/wiki/view.cgi?doc=961

51. Joubert Syndrome Selected medical images OMIM joubert syndrome. joubert syndrome; Joubert s syndrome;Joubert s syndrome; Sources Eurorad; Indian Pediatrics. Print this page. http://www.gfmer.ch/Genetic_diseases/Joubert_syndrome/Joubert_syndrome.htm

Selected medical images OMIM Joubert syndrome Joubert syndrome Joubert's syndrome Joubert's syndrome Sources Eurorad Indian Pediatrics Print this page Edited by Aldo Campana, August 13, 2003

52. Health, Conditions And Diseases, Genetic Disorders: Joubert Syndrome joubert syndrome Foundation Organization, conferences and contactdetails. joubert syndrome - Information sheet compiled by NINDS. http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_

Top Health Conditions and Diseases Genetic Disorders ... Joubert Syndrome Foundation - Organization, conferences and contact details. FAQs about the disease, information center and resources. Joubert Syndrome - Information sheet compiled by NINDS. National Library of Medicine: Joubert syndrome - Synonyms, a summary and a list of major features for this disorder. Readers Digest Health - A brief discussion about joubert syndrome, its alternate names and further resources. TheFetus.net - A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. A rare, genetic disorder that affects the area of the brain that controls balance and coordination. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the Open Directory and has been modified and enhanced using our own technology. About ComboSE Download Combose Toolbar

53. Joubert Syndrome joubert syndrome Foundation Organization, conferences and contactdetails. joubert syndrome - Information sheet compiled by NINDS. http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Jo

Directory Home Health Conditions and Diseases Genetic Disorders : Joubert Syndrome (5) Joubert Syndrome Foundation - Organization, conferences and contact details. FAQs about the disease, information center and resources. Joubert Syndrome - Information sheet compiled by NINDS. National Library of Medicine: Joubert syndrome - Synonyms, a summary and a list of major features for this disorder. Readers Digest Health - A brief discussion about joubert syndrome, its alternate names and further resources. TheFetus.net - A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links marijuana drug testing pms treatment creatine serum polycystic ovarian disease ... cancer research The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

54. Ocular Motor Apraxia: Joubert Syndrome joubert syndrome. The results showed that her cerebellum, specifically her fourthventricle, exhibited a typical formation, characteristic of joubert syndrome. http://wwweb.org/oma/messages/668.html

OMA Message Board message Ref: http://wwweb.org/oma/messages/668.html Look at replies to this message Reply to this message Return to OMA Message Board Index Page ... Help file joubert syndrome From: T Jung, e-mail: tjung@tklp.com Date: 05 Jun 2000 at 18:08 Replying to: message 645.html I have a twenty-month-old daughter. She was diagnosed with OMA when she was a year old. We were then refereed to see a neuro optomologist who recommended a MRI. The results showed that her cerebellum, specifically her fourth ventricle, exhibited a typical formation, characteristic of Joubert syndrome. Typical behavioral characteristics associated with Joubert syndrome are poor balance, OMA, muscular hypotonia, slow speech development and behavioral problems. There is currently no genetic testing for Joubert. My daughter is doing fine and does not suffer from the above-described Joubert symptoms other than OMA. She started walking when she was 15 month old; however, her balance, although much improved, is at times tenuous. She is starting to utter sentences. Following is the link about Joubert Syndrome: http://www.ninds.nih.gov/patients/disorder/joubert/joubert.htm

55. Ocular Motor Apraxia: Re:Joubert Syndrome rejoubert syndrome. From tejoon, e We have a 2year-old daughter whohas oma associated with joubert syndrome. Her neuro opthamologist http://wwweb.org/oma/messages/805.html

OMA Message Board message Ref: http://wwweb.org/oma/messages/805.html Look at replies to this message Reply to this message Return to OMA Message Board Index Page ... Help file re:Joubert syndrome From: tejoon, e-mail: tjung@tklp.com Date: 08 Dec 2000 at 19:30 Replying to: message 803.html We have a 2-year-old daughter who has oma associated with Joubert syndrome. Her neuro opthamologist recommended a MRI, which showed a malformation of the cerebellum typical of Joubert syndrome. My daughter's motor skills are within normal range; she walks, runs but can't jump yet. Her balance is not that great. According to her geneticist who is somewhat familiar with Joubert syndrome, she has very mild manifestation typically associated with Joubert syndrome. http://www.joubertfoundation.com/ should be able to provide you with little more information on this syndrome. If you have any questions, feel free to e-mail me. Replies to this message: Reply to this message: The subject or title of the message that you would like to send (required): Your name, eg. J Smith (required):

56. :: Ez2Find :: Joubert Syndrome Guide joubert syndrome, Guides, joubert syndrome. ez2Find Home Directory Health Conditions and Diseases Genetic Disorders joubert syndrome (5) http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Joubert Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Joubert Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Joubert Syndrome Web Sites Joubert Syndrome [Site Info] [Translate] [Open New Window] Information sheet compiled by NINDS. URL: http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm Joubert Syndrome Foundation [Site Info] [Translate] [Open New Window] Organization, conferences and contact details. FAQs about the disease, information center and resources. URL: http://www.joubertfoundation.com/ National Library of Medicine: Joubert syndrome [Site Info] [Translate] [Open New Window] Synonyms, a summary and a list of major features for this disorder.

57. Joubert Syndrome joubert syndrome PubMed Medline search on joubert syndrome joubert syndrome factsheetNational Institute for Neurological Disorders and Stroke. Support Groups. http://www.ion.ucl.ac.uk/library/patient/joubert.htm

Joubert syndrome PubMed Medline search on Joubert Syndrome Joubert Syndrome factsheet: National Institute for Neurological Disorders and Stroke Support Groups Joubert Syndrome Foundation 12348 Summer Meadow Rd. Rock, MI, 49880, USA Tel: 906-359-4707 Email: joubertfoundation@joubertfoundation.com This is an international network of parents who share knowledge, experience, and emotional support. The group offers a networking list, newsletter, and a biannual conference. The US based website has an information centre and FAQ's.

58. Health Library - joubert syndrome. Important It is possible that the main title of thereport joubert syndrome is not the name you expected. Please http://12.31.13.29/library/healthguide/IllnessConditions/topic.asp?hwid=nord20

59. Joubert Syndrome Information Medical Wisdom joubert syndrome Information Page Table of Contents (click to jump to sections).What is joubert syndrome? Is there any treatment? What is the prognosis? http://medicalwisdom.com/health/disorders/joubert.htm

Join our Message Board Forum Health Concerns Women's Health ... Dental Health Concerns Joubert Syndrome Information Page Table of Contents (click to jump to sections) What is Joubert Syndrome? Is there any treatment? What is the prognosis? What is Joubert Syndrome? Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing ( hyperpnea ), jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements ( ataxia ). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Seizures may also occur. Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but in some families, Joubert syndrome appears to be inherited via a recessive gene. Is there any treatment? Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored

60. JOUBERT SYNDROME FOUNDATION       1025 joubert syndrome FOUNDATION 1025 6931 South Carlinda Avenue Columbia, MD 21046Tel (410) 9978084 Fax (410) 992-9184 E-Mail joubertduquette@home.com URL http://ns1.faseb.org/genetics/ashg/ann-meet/2000-exlst/2000-ex-121a.htm

EXHIBITOR Booth numbers follow the name of the exhibiting company. JOUBERT SYNDROME FOUNDATION 1025 6931 South Carlinda Avenue Columbia, MD 21046 Tel: (410) 997-8084 Fax: (410) 992-9184 E-Mail: joubertduquette@home.com URL: http://www.joubertfoundation.com Joubert Syndrome Foundation is an international network of volunteers and parents dedicated to building networks of support, research and information for families living with Joubert Syndrome. Joubert Syndrome is a rare genetic disorder characterized by absence or malformation of the vermis (brain stem) that controls coordination, balance and affects speech and eye movements.

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