21. Basic Summary For Joubert Syndrome - WrongDiagnosis.com Overview of joubert syndrome as a medical condition including introduction,prevalence, prognosis, profile, symptoms, diagnosis, misdiagnosis, http://www.wrongdiagnosis.com/j/joubert_syndrome/basics.htm

Home Symptoms Diseases Risks ... Joubert Syndrome 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 Prevalence and Incidence of Joubert Syndrome Prognosis of Joubert Syndrome Symptoms of Joubert Syndrome Treatments for Joubert Syndrome ... Statistics about Joubert Syndrome Next chapters: Krabbé Disease Landau-Kleffner Syndrome Megalencephaly Melkersson-Rosenthal Syndrome ... Feedback Basic Summary for Joubert Syndrome Main name of condition: Joubert Syndrome What is Joubert Syndrome? Brief description of Joubert Syndrome: Rare genetic brain disorder affecting balance and coordination. Parent types of Joubert Syndrome: Brain conditions Genetic Disease Organs Affected by Joubert Syndrome: brain How many people get Joubert Syndrome? Prevalance of Joubert Syndrome: rare How serious is Joubert Syndrome? Prognosis of Joubert Syndrome: Variable. Disability ranges from mild problems to moderate mental retardation. Prognosis of Joubert Syndrome: The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

22. The Genetics Of Joubert Syndrome joubert syndrome and Related Disorders http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Joubert Syndrome joubert syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination . http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

24. The Genetics Of Joubert Syndrome v Current Research **NEWLY DISCOVERED GENE**. v How can I get involved?For Physicians Researchers. v Treating Children with joubert syndrome http://www.ccm.ucsd.edu/jsrd/

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 Home Funded by the March of Dimes

25. Joubert Syndrome Cerebellar Vermis Agenesis-Hypernea-Episodic Eye joubert syndrome Cerebellar Vermis AgenesisHypernea-Episodic Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

26. Joubert Syndrome / The Family Village The joubert syndrome Foundation is an international network of parents who share The joubert syndrome Foundation matches parents who wish to tallk with http://www.familyvillage.wisc.edu/lib_joub.htm

Joubert Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Joubert Syndrome" Who to Contact Joubert Syndrome Foundation 6931 South Carlinda Columbia, MD 21046 Web: http://www.joubertfoundation.com/ The Joubert Syndrome Foundation is an international network of parents who share knowledge, experience and emotional support. They offer a networking list, a newsletter, that is published four times a year, a play a role in educating physicians and their support team, and work to increase public awareness of Joubert Syndrome. The Joubert Syndrome Foundation matches parents who wish to tallk with other parents whose child has similiar problems, they also provide a new parent packet that includes the newsletter, medicial journal articles, and the networking list. There are conference videos available, call for charges. They also host a national conference; call for further details. Where to Go to Chat with Others Joubertsyndrome List Serves only as a forum for sharing personal stories, therapy experience, behavioral and social issues. Learn More About It Joubert Syndrome FAQ Joubert Syndrome Information from the OMIM data base.

27. BBC - Health - Conditions - Joubert Syndrome A guide to joubert syndrome and its symptoms. joubert syndrome (also knownas cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare http://www.bbc.co.uk/health/conditions/joubert1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Joubert Syndrome Dr Trisha Macnair Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain. In this article Autosomal recessive inheritance Supportive treatment Normally the cerebellum (an area at the back of the brain which plays an important part in the control of balance and co-ordination) has two interconnected halves or hemispheres. However, in Joubert syndrome the connection between the two hemispheres of the cerebellum, known as the cerebellar vermis, fails to develop. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia. Another area of the brain called the brain stem, which controls basic functions such as breathing, is also malformed. This results in an abnormal rapid breathing pattern, especially in very early childhood. An affected baby may pant or breath rapidly for a while (this is known as episodic tachypnoea) and then stop breathing (this is called apnoea). Many other features have also been described in Joubert syndrome (see the box below). The condition is diagnosed on the basis of physical features, symptoms and an MRI scan of the brain which shows typical abnormalities, including one in which some of the brain structures form the characteristic shape of a molar tooth.

28. TheFetus.net - Joubert Syndrome -Sosa Olavarría, A, MD Comprehensive guide to prenatal ultrasound. Covers all aspects of sonography inpregnancy and the fetus. http://www.thefetus.net/page.php?id=123

29. Joubert Syndrome joubert syndrome national and international support groups, clinics with geneticcounselors and geneticists. http://www.kumc.edu/gec/support/joubert.html

Joubert syndrome Cerebelloparenchymal Disorder IV, CPD IV, Cerebellar Vermis Agenesis, Joubert-Boltshauser Syndrome Joubert Syndrome Foundation, Inc. includes Joubert Syndrome Parents-In-Touch 6931 South Carlinda Ave Columbia, MD 21046 Phone: 410.997.8084 Fax: 410.992.9184 E-mail: joubertfoundation@joubertfoundation.com Web site: www.joubertfoundation.com/ Joubert Syndrome FAQ Also See: National organizations information on genetic conditions or birth defects Joubert Syndrome Information Page , National Institute of Neurological Disorders and Stroke (NINDS) Joubert Syndrome , Online Mendelian Inheritance in Man (OMIM) *213300 To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised July 16, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

30. Joubert Syndrome joubert syndrome is a rare, genetic disorder that affects the area of the brainthat controls balance and coordination. http://healthlink.mcw.edu/article/921771576.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> 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. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

31. CHDD Center - Joubert Syndrome REA with joubert syndrome and many of these cerebellar malformation conditions.The joubert syndrome REA represents an interdisciplinary collaboration by http://depts.washington.edu/chdd/MRDDRC/REAs/JoubertREA.html

32. JOUBERT SYNDROME: Contact A Family - For Families With Disabled Children: Inform Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/j12.html

printer friendly JOUBERT SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry, Hypotonia ), lack of muscle control (ataxia) and difficulty controlling horizontal eye movements (oculomotor apraxia). Other symptoms include abnormal breathing patterns (hyperpnea), kidney abnormalities and a characteristic facial appearance. Individuals with Joubert syndrome may show some or all of these features and, in addition, may be differently affected by the severity of symptoms. Joubert syndrome is caused by changes in a gene on chromosome 9. These changes affect development of certain parts of the brain including the cerebellar vermis and brain stem. The cerebellar vermis is responsible for controlling posture, co-ordinating head and eye movements and fine-tuning muscles. The brain stem is responsible for maintaining the body's involuntary functions such as heartbeat, breathing, and thermoregulation. The cerebellar vermis and brain stem are underdeveloped or absent in individuals with Joubert syndrome. Such changes may be identified on an MRI scan of the brain. Hypotonia is particularly evident in the neonatal period and during infancy. Children may be moderately or severely affected and may lack head control, have difficulties rolling over, sitting, standing and walking. Unsteadiness (ataxia) and balance problems may also be present. Joubert syndrome also affects breathing and abnormal breathing commonly occurs during the neonatal period. This may, however, improve with age. Sadly, some infants die within the first three years from breathing problems.

33. Joubert Syndrome joubert syndrome is a very rare neurological disorder involving a malformationof the area of the brain http://my.webmd.com/hw/health_guide_atoz/nord20.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Joubert Syndrome Important It is possible that the main title of the report Joubert Syndrome 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. Synonyms Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome

34. Joubert Syndrome International network. 7 chapters. Founded 1992. Sharing of knowledge, experienceand emotional support http://my.webmd.com/hw/health_guide_atoz/shc29jou.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Joubert Syndrome Foundation Joubert Syndrome Joubert Syndrome Foundation International network. 7 chapters. Founded 1992. Sharing of knowledge, experience and emotional support for parents of children with Joubert syndrome and related cerebellar disorders. Aims to educate physicians and support team. Group offers a newsletter and a biennial conference. WRITE: Joubert Syndrome Fdn. 6931 South Carlinda Ave. Columbia, MD 21046 CALL: 410-997-8084 E-MAIL: joubertdupuette@comcast.net WEBSITE: www.joubertfoundation.com VERIFIED: 10/18/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

35. Joubert Syndrome joubert syndrome is a very rare neurological disorder involving a malformationof the area of the brain that controls balance and coordination. http://www.bchealthguide.org/kbase/nord/nord20.htm

var hwPrint=1;var hwDocHWID="nord20";var hwDocTitle="Joubert Syndrome";var hwRank="1";var hwSectionHWID="nord20-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Joubert Syndrome Important It is possible that the main title of the report Joubert Syndrome 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. Synonyms Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome Polydactyly-Joubert Syndrome Retinal Aplastic-Cystic Kidneys-Joubert Syndrome Vermis Aplasia Vermis Cerebellar Agenesis Disorder Subdivisions None General Discussion Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy. Resources Joubert Syndrome Foundation 6931 South Carlinda Avenue Columbia, MD 21046

36. Healthfinder® — Joubert Syndrome Foundation & Related Cerebellar Disorders The joubert syndrome Foundation Related Cerebellar Disorders was founded toshare knowledge, experiences and emotional support with those affected by http://www.healthfinder.gov/orgs/HR2531.htm

Help Advanced Search News Library ... Organizations Organization URL(s) joubert@joubertsyndrome.org www.joubertsyndrome.org Other Contact Information 6931 South Carlinda Columbia, MD 21046 410-997-8084 (Voice, ) Description Online Resources FAQ - About Joubert Syndrome http://www.joubertsyndrome.org/FAQ.asp Joubert Syndrome Information Center http://www.joubertsyndrome.org/InfoCenter.asp Joubert Syndrome Resources http://www.joubertsyndrome.org/Resources.asp Print Resources Newsletters and videotapes are available. Related Topics Apnea Ataxia Telangiectasia Mental Retardation Nervous System Diseases Joubert's Syndrome Review Date Wed Sep 8, 2004 About Us Accessibility Freedom of Information Act Privacy ... Office of Disease Prevention and Health Promotion,

37. Indian Pediatrics - Case Reports joubert syndrome is a rare autosomal recessive disorder characterized by We report a case of joubert syndrome presenting in the neonatal period. http://www.indianpediatrics.net/sept2001/sept-1045-1049.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2001; 38: 1045-1049 Joubert Syndrome Rekha Solomon, Atanu Kumar Jana, Surendra Singh*, Agnihotri Biswas From the Departments of Neonatology and Radio-diagnosis*, Christian Medical College Hospital, Vellore 632 004, Tamil Nadu, India. Correspondence to: Dr. A.K. Jana, Professor and Head, Neonatology Department, Christian Medi-cal College Hospital, Vellore 632 004, Tamil Nadu, India. E-mail: neonat@cmcvellore.ac.in Manuscript received: December 5, 2000;Initial review completed: December 29, 2000;Revision accepted: February 27, 2001. Joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem. We report a case of Joubert syndrome presenting in the neonatal period. Although previously described in Indian literature(1), this is probably the first case report of Joubert syndrome in a neonate from our country. Case Report A 12-hour-old term baby boy born to a second gravida mother was admitted with history of respiratory distress since 4 hours of age. The infant was the product of a second degree consanguineous marriage. The first pregnancy of the mother ended in an

38. Gene For Joubert Syndrome With Excessive Brain Folds Discovered By UCSD Research Researchers at the University of California, San Diego (UCSD) School of Medicinehave discovered the gene for a form of joubert syndrome, http://www.sciencedaily.com/releases/2004/10/041021083603.htm

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Advertise With Us Source University Of California, San Diego School Of Medicine Date Print this page Email to friend Gene For Joubert Syndrome With Excessive Brain Folds Discovered By UCSD Researchers And Harvard Team Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the brain controlling balance and coordination in about 1 in 10,000 individuals. Their study, published in the November 2004 issue of the American Journal of Human Genetics*, pointed to mutations in a gene called AHI1 that lead to the production of a protein the scientists named Jouberin. Computerized tomography of brain from normal subject and a subject with Joubert syndrome with a mutation in the newly identified gene. (Image courtesy of University Of California, San Diego School Of Medicine) Related News Stories UCSD Researchers Identify Chromosome Location For 2nd Form Of Joubert Syndrome (September 5, 2003)

39. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Books The Official Parent s Sourcebook on joubert syndrome A Directory joubert syndrome Foundation Organization, conferences and contact details. http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Joubert Syndrome Subtopics See Also: Health: Conditions and Diseases: Chronic Illness Search Google: Joubert Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). full story Big Differences In Duplicated DNA Distinguish Chimp And Human Genomes (September 2, 2005)

40. Health Information Resource Database: Joubert Syndrome Foundation & Related Cere joubert syndrome Foundation Related Cerebellar Disorders joubert syndromeis the agenesis of the cerebellar vermis characterized clinically by attacks http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2531

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