21. Joubert Syndrome joubert syndrome Guide picks. NINDS joubert syndrome Information on the syndromefrom the National Institute for Neurological Disorders and Stroke. http://rarediseases.about.com/cs/joubertsyndrome/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Joubert Syndrome Guide picks A congenital disorder in which a part of the brain (cerebellar vermis) is missing or underdeveloped and the brain stem is malformed, which affects balance and coordination. Joubert Syndrome Foundation Frequently asked questions about the syndrome, and links to more information on topics such as medical care, legal help, and therapies. MCW Health Link Brief article from the Medical College of Wisconsin. NINDS: Joubert Syndrome Information on the syndrome from the National Institute for Neurological Disorders and Stroke. NORD: Joubert Syndrome Brief definition of the syndrome from the National Organization for Rare Disorders (NORD). Seattle Post-Intelligencer article "Teenager Glides Past Disability With Help of Skiforall Program" profiles a teenager with Joubert Syndrome.

22. NINDS Joubert Syndrome Information Page joubert syndrome information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). NINDS joubert syndrome Information Page. http://accessible.ninds.nih.gov/health_and_medical/disorders/joubert.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Joubert Syndrome Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Joubert Syndrome Information Page Reviewed 11-07-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Joubert Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Joubert Syndrome? Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation.

23. Health Library - Joubert Syndrome joubert syndrome. Cerebellarparenchymal Disorder IV; CerebelloparenchymalDisorder IV Familial; Chorireninal Colobomajoubert syndrome; http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

24. Health Library - Joubert Syndrome joubert syndrome. Self Help Clearinghouse. joubert syndrome Foundation.International network. 7 chapters. Founded 1992. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29j

25. Health Library - Joubert Syndrome joubert syndrome. Cerebellarparenchymal Disorder IV; CerebelloparenchymalDisorder IV Familial; Chorireninal Colobomajoubert syndrome; http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

26. Health Library - Joubert Syndrome joubert syndrome. Self Help Clearinghouse. joubert syndrome Foundation.International network. 7 chapters. Founded 1992. http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29jou

27. What Is Joubert Syndrome? The Genetics of joubert syndrome. What is joubert syndrome? joubert syndromeis a rare genetic developmental disorder, first identified in 1969. http://gleesongenetics.ucsd.edu/whatisjs.htm

The Genetics of Joubert Syndrome What is Joubert Syndrome? Joubert syndrome is a rare genetic developmental disorder, first identified in 1969. In patients with Joubert syndrome, certain regions of the brain are underdeveloped or malformed. These areas (notably the cerebellar vermis and malformed brain stem) include those affecting the centers for balance and coordination. This can lead to impaired attention, visual, spatial, motor, language and social functioning skills. Joubert syndrome is characterized by a host of features, many of which do not occur in every patient. Features that can be associated with Joubert Syndrome: Difficulty breathing including a) Irregular pattern b) Panting/labored breath c) Apnea (breathing stops momentarily) Difficulty with balance (ataxia) Limpness/lack of muscle tone or hypotonia Eye movement abnormality Head/skull/brain malformations including a) Encephalocele-a condition involving a hole in the skull, so it does not fully enclose the brain b) Meningocele-a condition involving a hole in the membrane around the brain c) Hydrocephalus-a condition involving too much fluid around the brain Kidney problems including a) Cysts b) Nephronopthesis c) Failure Vision problems including blindness Liver problems Polydactyly (more than five fingers or toes per limb) Tongue tumors Pituitary abnormality Autistic-like behavior Treatment and Prognosis Joubert Syndrome Links Current Research How can I get involved?

28. The Genetics Of Joubert Syndrome joubert syndrome? http://gleesongenetics.ucsd.edu/

The Genetics of Joubert Syndrome University of California, San Diego Gleeson Lab What is Joubert Syndrome? Joubert Syndrome Links Newly Updated! Current Research How can I get involved? Treating Children with Joubert Syndrome Letter to Healthcare Providers Newly Updated! The State of Research Call for Patients Contact us Funded by the March of Dimes Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert

29. Health Library - Joubert Syndrome Saint Luke's Health System eLibrary. joubert syndrome. Self Help Clearinghouse.joubert syndrome Foundation. International network. 7 chapters. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

30. Health Library Joseph Disease. joubert syndrome. joubert syndrome FoundationJoubertSyndrome. Juvenile Diabetes Research Foundation-Diabetes. Juvenile http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l

31. What Is Joubert Syndrome? What is joubert syndrome and how it effects Joey .. mmjaziz_1122-01.jpg(32206 bytes). What is joubert syndrome? joubert syndrome http://www.allaboutjoey.com/what_is_joubert_syndrome.htm

What is Joubert Syndrome and how it effects Joey...... What is Joubert Syndrome? Joubert Syndrome (JS) is a rare genetic disorder affecting less than 350 people in the world. The gene for this syndrome has not yet been located, but it is aggressively being researched now. The key relationship between all JS patients is that the part of the brain called the cerebellar vermis is missing or is not formed properly. The most typical features of Joubert Syndrome are: Absence or underdevelopment of part of the brain called the cerebellum vermis, which controls balance and coordination. A malformed brain stem, which may cause an abnormal breathing pattern called episodic hypernea, in which babies pant, and may be followed by apnea (cessation of breathing). Abnormal eye and tongue movements. Decreased muscle tone. It can be marked in the neonatal period and in infancy. Seizures (less typical). Kidney and Liver Complications People who have Joubert Syndrome have a chance of developing Kidney or Liver complications.

32. AD HOC BIBLIO - INDEX SUJETS LETTRE J Compilé Le 14/01/03 Congenital Muscular dystrophy in Jordanian children .a; JoubertSyndrome A better understanding of joubert syndrome (Dossier http://www.cidg.com/~marienf/k/i/mid1j.htm

J Jalousie... La jalousie.... [m] Jamaique... Parent evaluation of community based rehabilitation in Jamaica.... [a] Jambe... Precise localization of the motor nerve branches to the hamstring muscles: An ai... [a] Japon... Epidemiologic pictures of Kawasaki disease in Japan: From the nationwide inciden... [a] [m] Medical treatment of West Syndrome in Japan.... [a] Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan.... [a] The impact of traumatic brain injury on family members living with patients : a ... [a] Jardinage... My tiny, accessible garden.... [a] Jebsen, Test de fonctionnement de la main... Wrist extensor orthoses: dexterity and grip strenght across four styles... [a] Jebsen-Taylor Test... Efficacy and efficiency: self-designed versus instructor-designed study tools.... [a] Enteral tube feeding in a patient with traumatic brain injury.... [a] Use of percutaneous gastrojejunostomy feeding tubes in the rehabilitation of str... [a] Jeu... Assessment of play and leisure: delineation of the problem.... [a] Jeu symbolique...

33. Snoezelen : An Overview Of Research With... Translate this page Titre/Title, Indian Pediatrics. Article, JoubertSyndrome. Identification, 38 2001 Pages 1045-49. http://www.cidg.com/~marienf/k/i/n/m019308.htm

# Article : A0033837 Cote/Call Number WB963/Snoezelen Auteur/Author Lancioni, G. E. Cuvo, A. J. O'Reilly, M. F. Titre/Title Disability and Rehabilitation Article Snoezelen : an overview of research with people with developmental disabilities and dementia. Identification No 4 24 2002 Pages: 175-84 Descripteurs/Descriptors Handicap intellectuel Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

34. Health Library: All Topics: J: Joubert's Syndrome - Healthfinder® FAQ About joubert syndrome Answers to questions about this rare genetic disorder,including characteristics of the disease, prognosis, and treatment. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=952

35. Healthfinder® — Joubert Syndrome Information Center Online information center provides resources, articles and reports relatedto joubert syndrome. joubert syndrome Information Center. internet URL. http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=4197&lang=1

36. Joubert Syndrome Foundation Return to Search Page joubert syndrome Foundation. 6931 S. Carlina Avenue Columbia,MD 210461310 Conditions joubert syndrome. Hours Answered 7 days, 10-4 http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Jouber

37. Joubert Syndrome Foundation Return to Search Page joubert syndrome Foundation. 6931 S. Carlina Avenue Columbia,MD 21046 Conditions joubert syndrome. Hours Answered 7 days, 104 http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Joub

38. NORD - National Organization For Rare Disorders, Inc. joubert syndrome. To purchase fulltext report ($7.50) View Cart/Checkout. ChorireninalColoboma-joubert syndrome; Hyperpnea, Episodic-Abnormal Eye Movement; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Joubert Syndr

39. DW Baby Thought To Have Joubert Syndrome DW Baby thought to have joubert syndrome. This article babies. So, the docsstarted looking for something else and found joubert syndrome. We http://neuro-www.mgh.harvard.edu/forum/DandyWalkerF/1.23.9912.37AMDWBabythoughtt

DW Baby thought to have Joubert Syndrome This article submitted by Kim Quackenbush on 1/23/99. Email Address: kimquackenbush@earthlink.net Jessica's DW related problems are: -DW cyst which caused hydro in 4th ventrical (VP shunt without a valve) -alternating tachypnea/apnea (panting/not breathing) -abnormal eye development in the brain stem -agenesis of the cerabellar vermis -hypotonia -Reflux (has Nissenfundalplication and g-tube) I would love to discuss with anyone who is interested or facing the same challeneges the way we are coping with these different things and the way the "joubert mimic" situation played out. Jessica is strong and big and healthy. She smiles and gurgles and is learning to sit up. She is our angel from heaven and we wouldn't trade her for the world. We are thrilled to have our special girl. Have faith. If you're married - GET OUT and have a life. Treasure each other. If your having problems with your insurance company, sue them. Don't isolate. Don't think you have to sacrafice your life because you have a special child. You can have both and your child will be better off - not to mention you! Call on the State agencies to help (they're not as lame as you think). Oh, did I mention, if you have trouble with your insurance company, sue? And definately sue your insurnace company if you have trouble. They need to learn that they are in the business of caring and everyone in the world who has insurance and never gets sick are paying for our children and SO BE IT! They are all still making money, anyway, so DEMAND the best care for your child!

40. EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES Features Listed For EGGER (1982) joubert syndrome WITH ORO-FACIO-DIGITALANOMALIES. McKusick 213300. Apnoea or tachypnoea; Brain http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?524

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