1. Joubert Syndrome Information Page: National Institute Of Neurological Disorders joubert syndrome information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/joubert/joubert.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Joubert Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Joubert Syndrome NINDS Joubert Syndrome Information Page 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 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 (

2. Joubert Syndrome Synonyms, a summary and a list of major features for this disorder. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Joubert syndrome Synonyms Joubert-Boltshauser syndrome cerebellar vermis agenesis cerebelloparenchymal disorder IV (CPD IV) Summary Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated. Major Features Eyes: Abnormal movement and chorioretinal coloboma, blepharoptosis, and retinal dysplasia. Mouth and oral structures: Tongue tumors and protrusion. Hand and foot: Polydactyly. Muscles: Hypotonia. Nervous system: Hypoplasia or aplasia of the cerebellar vermis and occasional occipital meningoencephalocele in association with hemifacial spasms and ataxia. Tomographic findings include dilated cisterna magna and lack of the parenchyma in the midline between cisterna magna and fourth ventricle with enlarged communication between the two parts. Gastrointestinal system: Duodenal atresia in some cases. Fibrosis in some cases.

3. The Genetics Of Joubert Syndrome Information is presented for both physicians and families with affected children, including disease description, treatment options, prognosis, and current research. http://www.ccm.ucsd.edu/jsrd.htm

The Genetics of Joubert Syndrome and Related Disorders University of California, San Diego Gleeson Lab For Patients v What is Joubert Syndrome? v Treatement and Prognosis v Joubert Syndrome Links v Current Research **NEWLY DISCOVERED GENE** v How can I get involved? v Treating Children with Joubert Syndrome v Letter to Healthcare Providers v The State of Research **AHI1 GENE DISCOVERY** v Call for Patients v Current Study Information v Study Forms Contact us CCM Home Funded by the March of Dimes and the National Institutes of Health

4. TheFetus.net - Joubert Syndrome -Philippe Jeanty, MD, PhD, Nashville, TN And Gia A detailed look at joubert syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. http://www.thefetus.net/page.php?id=122

5. Joubert Syndrome Foundation & Related Cerebellar Disorders The joubert syndrome Foundation Related Cerebellar Disorders is an internationalnetwork of parents who share knowledge, experience, emotional support. http://www.joubertsyndrome.org/

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 agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem. The most common features of the disorder 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. We are celebrating our 13th year of providing information about the disorder to families all over the world! newsletter , and a biennial conference This website is funded entirely by private contributions made by members and friends of the foundation. syndrome, joubert syndrome, joubert, joubert disease, joubert's syndrome, jobair syndrome, what is joubert syndrome, jobert, jouberts, joubert syndrome treatment, joubert syndrome prognosis, joubert syndrome research, cerebellum, cerebellar, Arima, Dekaban, Senior-Loken, Varadi, COACH, cerebellar hypoplasia

6. Joubert Syndrome Foundation & Related Cerebellar Disorders Organization, conferences and contact details. FAQs about the disease, information center and resources. http://www.joubertfoundation.com/

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 agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem. The most common features of the disorder 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. We are celebrating our 13th year of providing information about the disorder to families all over the world! newsletter , and a biennial conference This website is funded entirely by private contributions made by members and friends of the foundation. syndrome, joubert syndrome, joubert, joubert disease, joubert's syndrome, jobair syndrome, what is joubert syndrome, jobert, jouberts, joubert syndrome treatment, joubert syndrome prognosis, joubert syndrome research, cerebellum, cerebellar, Arima, Dekaban, Senior-Loken, Varadi, COACH, cerebellar hypoplasia

7. Joubert Syndrome Information Page National Institute Of joubert syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Joubert Syndrome Foundation & Related Cerebellar Disorders The joubert syndrome Foundation Related Cerebellar Disorders is an internationalnetwork of parents who share knowledge, experience, emotional support. http://www.joubertsyndrome.org/RainbowFundraiser.asp

RAINBOW FUNDRAISER LETTER Dear Friend: The story of the Joubert Syndrome Foundation continues to evolve as more people donate their time, money and energies to spreading the word about Joubert Syndrome. One of our main goals is to educate the medical community about Joubert Syndrome so families can continue to be hopeful about the future for their children. In January 1992, three mothers decided to tackle the impossible. With very little medical information available at the time and with only eight known families in the United States whose children shared the diagnosis of Joubert Syndrome, these mothers set out to motivate the medical community to find answers. They began by locating more families and the Joubert Syndrome Parents-In-Touch Network was born. Through fundraising and your donations, the medical community has a better understanding of the potential future for a person with Joubert Syndrome... and it is hopeful. Progress has been made, but we still have a long way to go. In the past, parents of children with Joubert Syndrome had been given a bleak prognosis. Many families were told that Joubert Syndrome was a terminal condition and that their child had an abnormality of the brain that was incompatible with life. Many believed that survival meant severe handicaps. Imagine the devastation they felt.

9. Joubert Syndrome Foundation Related Cerebellar Disorders The joubert syndrome Foundation Related Cerebellar Disorders is an international network of parents who share knowledge, experience, emotional http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. All About Joey Offers a description of Joey's life, his likes and dislikes, his family, and joubert syndrome. http://www.allaboutjoey.com

Joey's Bio Joey's Family Joey's Movie Reviews Joey's Picture Pages Joey's Bio Joey's Family Joey's Movie Reviews Joey's Picture Pages ... Send comments to us

11. Joubert Syndrome joubert syndrome What is joubert syndrome? http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Researchers Identify Joubert Syndrome Genes: National Institute Of Neurological The National Institute of Neurological Disorders and Stroke (NINDS) is the leadingsupporter of biomedical research on disorders of the brain and nervous http://www.ninds.nih.gov/news_and_events/news_articles/news_article_Joubert_gene

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system News Press Releases News Articles Funding News Events Calendar of Events Proceedings Online Events Congressional Testimony Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home News and Events News Articles Researchers Identify Joubert Syndrome Genes For release: Monday, February 07, 2005 Overview Researchers have identified the genes for two different forms of Joubert syndrome, a rare developmental disorder that causes coordination and movement problems and mental retardation in children. The findings allow genetic testing for some forms of the disorder and provide valuable insights about how the human brain develops. Get Web page suited for printing Email this to a friend or colleague Researchers have identified the genes for two different forms of Joubert syndrome, a rare developmental disorder that causes coordination and movement problems and mental retardation in children. The findings allow genetic testing for some forms of the disorder and provide valuable insights about how the human brain develops. In two new studies, reported by Christopher A. Walsh, M.D., Ph.D., and colleagues in the September 2004 issue of

13. Joubert Syndrome Syndrome joubert syndrome. Synonyms. JoubertBoltshauser syndrome cerebellar vermis agenesis cerebelloparenchymal disorder IV (CPD IV) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Joubert Syndrome joubert syndrome is a rare, genetic disorder that affects the area of the brain that Treatment for joubert syndrome is symptomatic and supportive. http://www.clevelandclinic.org/health/health-info/docs/1200/1292.asp?index=6040

15. Joubert Syndrome / The Family Village joubert syndrome Foundation 6931 South Carlinda Columbia, MD 21046 410997-8084 Web http//www.joubertfoundation.com/ http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Show-documents.asp joubert syndrome Written Information. Care Treatment. joubert syndrome New Search Contact Us Disclaimer Send This Link Help Site Map http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1314

17. Reader's Digest - Rd.com A brief discussion about joubert syndrome, its alternate names and further resources. http://www.rd.com/common/nav/index.jhtml?articleId=8612189

18. UCSD Researchers Identify Chromosome Location For 2nd Form Of Physicians may be a step closer to prenatal diagnosis of a rare genetic disorder called joubert syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Introduction: Joubert Syndrome - WrongDiagnosis.com Introduction to joubert syndrome as a medical condition including symptoms,diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/j/joubert_syndrome/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Joubert Syndrome Next sections Basic Summary for Joubert Syndrome Prevalence and Incidence of Joubert Syndrome Prognosis of Joubert Syndrome Symptoms of Joubert Syndrome ... Treatments for Joubert Syndrome Next chapters: Krabbé Disease Landau-Kleffner Syndrome Megalencephaly Melkersson-Rosenthal Syndrome ... Feedback Introduction: Joubert Syndrome Joubert Syndrome: Rare genetic brain disorder affecting balance and coordination. 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. Researching symptoms of Joubert Syndrome: Further information about the symptoms of Joubert Syndrome is available including a list of symptoms of Joubert Syndrome , or alternatively return to research other symptoms in the symptom center Treatments for Joubert Syndrome: Various information is available about treatments available for Joubert Syndrome , or research treatments for other diseases.

20. Center For Cerebellar Malformations Homepage joubert syndrome and Related Disorders **New Gene Discovery** Dandy Walker Malformation Arnold Chiari Malformation http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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