1. NINDS Joubert Syndrome Information Page joubert syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). More about joubert syndrome, http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations 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 NINDS Joubert Syndrome Information Page Reviewed 08-07-2002 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 Foundation Organization, conferences and contact details. FAQs about the disease, information center and resources. http://www.joubertfoundation.com/

3. 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.

4. Joubert Syndrome joubert syndrome. What is joubert syndrome? Is there any treatment?Treatment for joubert syndrome is symptomatic and supportive. http://www.clevelandclinic.org/health/health-info/docs/1200/1292.asp?index=6040

5. NORD - National Organization For Rare Disorders, Inc. Chorireninal Colobomajoubert syndrome. Hyperpnea, Episodic-Abnormal Eye Movement Kidneys, Cystic-Retinal Aplasia joubert syndrome. Polydactyly-joubert syndrome. Retinal Aplastic http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Joubert Syndr

6. 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

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

8. Future Research Directions In Joubert Syndrome Report on a meeting on Future Research Directions in joubert syndrome, heldJune 27 28, 2002. Future Research Directions in joubert syndrome. http://www.ninds.nih.gov/news_and_events/Joubert_Syndrome_2002.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Press releases Current Archived Events Proceedings ... NINDS Notes News articles Current Archived Online events Upcoming Archived Of interest.. Labs at NINDS Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health Future Research Directions in Joubert Syndrome Get Web page suited for printing See special format for printing (PDF) Email this to a friend or colleague Table of Contents (click to jump to sections) I. Overview and Introduction II. Clinical Approaches to Diagnosis and Management III. Genetics of Brain Development and Behavior IV. Autism and Joubert Syndrome ... Participant List Future Research Directions in Joubert Syndrome June 27 - 28, 2002 New Orleans, Louisiana I. Overview and Introduction This conference was funded by the National Institute of Neurologic Disorders and Stroke (NINDS), the Office of Rare Disorders, and the Joubert Syndrome Foundation. It took place on June 27-28, 2000 in New Orleans, and was a follow-up to a 1998 symposium on this disorder. Bernard L. Maria, M.D., M.B.A., chairperson, and Robert Finkelstein, Ph.D., Program Director, Neurogenetics Cluster, NINDS, outlined three goals for the conference. The first goal was to provide an overview of current knowledge during three sessions: clinical approaches to diagnosis and management, genetics of brain development and behavior, and Autism and Joubert syndrome. The second goal was to introduce established researchers from backgrounds in genetics, brain development, and behavior to the disorder. Finally, family representatives and research panelists were to engage in discussion culminating in the definition of future research goals.

9. Joubert Syndrome Foundation Inc. Home Page Welcome to the joubert syndrome Foundation Corp. Home Page. The JoubertSyndrome Foundation Corp. is an international network http://www.joubertsyndrome.org/

10. All About Joey Offers a discription 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 What is Joubert Syndrome That's my name, don't wear it out In Loving Memory ... Send comments to us

11. Joubert Syndrome joubert syndrome Extremely Rare Recessive Genetic Disorder types of therapy can only help out with joubert syndrome. Breathing patterns should be monitored too Exploring Psychology Text Book http://www.expage.com/joubert

oubert Syndrome Extremely Rare Recessive Genetic Disorder What is it ~~~> A genetic disorder that effects the cerebellar vermis. The cerebellar vermis is either underdeveloped or malformed. It can occur in mild or serve forms. It is inherited as an autosomal recessive trait. The syndrome is mostly in infants. About Cerebellum ~~~> The cerebellum is at the rear of the brainstem. It influences the functions of coordinating voluntary movement, such as balance, coordination, or walking. Just a LiL Problem ~~~> Much about the syndrome is not know. Yet, it is extrememly rare and estimated that only 10 people a year are born with it. More investigating is being done to understand more about Joubert. Characteristics ~~~> - Abnormal Breathing - Bad Balance Keeping - Abnormal Tongue and Eye Movements - Decreasing Muscle Tone - Seziures (less common) - Mild/Moderate Retardation - Sleep Apnea - Extra Fingers or Toes - Cleft Lip or Palate Treatment The most important part of treatment is support. Then theres THERAPY! Different types of therapy can only help out with Joubert Syndrome. Breathing patterns should be monitored too. Types of Therapy ~~~> Stimulation Physical Occupational Speech Water Sensory Integration Auditory Training Resources - Joubert Sydrome Foundation - Exploring Psychology Text Book - WebMD: Joubert Syndrome The Device Picture http://www.hometown.aol.com/britt9347/index.html

12. Joubert Syndrome Frequently Asked Questions joubert syndrome Frequently Asked Questions. What is joubert syndrome?Joubert What are the characteristics of joubert syndrome? The http://www.joubertsyndrome.org/JoubertFAQ's.htm

Joubert Syndrome Frequently Asked Questions Home Regional Coordinators Information Center Resources ... Diagnostics What is Joubert Syndrome? Joubert Syndrome is a very rare genetic disorder in which there are congenital problems which fit into a recognizable pattern of features. What are the characteristics of Joubert Syndrome? The most typical features of Joubert Syndrome include: 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). How is Joubert Syndrome diagnosed with an MRI? Please see the "Molar Tooth" MRI scan on the Diagnostic section. How is Joubert Syndrome inherited? Joubert Syndrome is inherited in an autosomal recessive manner. Both parents are carriers of the gene. Genetic testing is not currently available to detect this condition. Parents who have a child with Joubert Syndrome have a 1 in 4 chance of having another affected child in another pregnancy. Prenatal testing with a level 3 ultrasound may be possible. What is the prognosis for Joubert Syndrome?

13. Joubert Syndrome Information Diseases Database joubert syndrome JoubertBoltshauser syndrome Cerebelloparenchymal disorder type 4 CPD IV Familial aplasia of vermis, Disease Database Information http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=30688

14. 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

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! 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. Contents for Joubert Syndrome: Basic Summary for Joubert Syndrome Prevalence and Incidence of Joubert Syndrome Prognosis of Joubert Syndrome Symptoms of Joubert Syndrome ... Statistics about Joubert Syndrome Footnotes: 1. excerpt from

15. Readers Digest Health A brief discussion about joubert syndrome, its alternate names and further resources. http://www.rd.com/common/nav/index.jhtml?articleId=8612189

16. Your Search: processing requests joubert syndrome Foundation Inc. Home Page Celebrating 12 years 19922004 joubert syndrome Frequently Asked Questions 2004 Conference Information Pictures http://www.i-une.com/cgi-bin/meta/search.cgi?lang=en&keywords=Joubert Syndro

17. Show-documents.asp What s New. The Cleveland Clinic, joubert syndrome Written Information.Care Treatment. joubert syndrome. New Search1. The Cleveland http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1314

18. Joubert Syndrome joubert syndrome national and international support groups, clinics with geneticcounselors and geneticists. Image joubert syndrome. Cerebelloparenchymal 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)

19. Joubert Syndrome / The Family Village Library I J. joubert syndrome. The joubert syndrome Foundation is an internationalnetwork of parents who share knowledge, experience and emotional support. 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 410-992-8184 fax E-mail: joubertfoundation@joubertfoundation.com 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 Learn More About It Joubert Syndrome FAQ Joubert Syndrome Information from the OMIM data base.

20. GeneReviews: Joubert Syndrome Your browser does not support HTML frames so you must view joubert syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/joubert/

Your browser does not support HTML frames so you must view Joubert Syndrome in a slightly less readable form. Please follow this link to do so.

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