1. Joubert Syndrome Foundation Inc. Home Page Organization, conferences and contact details. FAQs about the disease, information center and resources.Category Health Conditions and Diseases joubert syndrome...... joubert syndrome Product Survey. Welcome to the joubert syndrome FoundationCorp. Home Page. The joubert syndrome Foundation Corp. http://www.joubertfoundation.com/

2. NINDS Joubert Syndrome Information Page Information sheet compiled by NINDS.Category Health Conditions and Diseases joubert syndrome......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 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. Is there any treatment?

3. Joubert Syndrome Synonyms, a summary and a list of major features for this disorder.Category Health Conditions and Diseases joubert syndrome......View the Full Record Syndrome, joubert syndrome. Synonyms, JoubertBoltshausersyndrome. cerebellar vermis agenesis. cerebelloparenchymal disorder IV (CPD IV). 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 / The Family Village joubert syndrome Foundation. The joubert syndrome Foundation Corp. is an international network of parents who share 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.

5. Indian Pediatrics - Case Reports joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, 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

6. 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.

7. 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 Happy Holidays

8. 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?

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

10. Joubert Syndrome Information Center Information Center joubert syndrome Foundation, Corp. Diagnostics. Will the real joubert syndrome please stand up? One geneticist's perspective.. http://www.joubertsyndrome.org/JS Information.htm

Information Center Joubert Syndrome Foundation, Corp. Home Joubert FAQ's Regional Coordinators Resources ... Therapy, Physical

11. 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

12. Joubert Syndrome joubert syndrome is a rare, genetic disorder that affects the area of the brainthat controls balance and coordination. Subscribe now . joubert syndrome. 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.

13. Joubert Syndrome Frequently Asked Questions How is joubert syndrome inherited? joubert syndrome is inherited in an autosomal recessive manner. http://www.joubertsyndrome.org/JoubertFAQ%27s.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?

14. 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

15. Joubert Syndrome Information Center Information Center. joubert syndrome Foundation, Corp. Home. Joubert FAQ's http://www.joubertfoundation.com/JS%20Information.htm

Information Center Joubert Syndrome Foundation, Corp. Home Joubert FAQ's Regional Coordinators Resources ... Therapy, Physical

16. Show-documents.asp joubert syndrome Written Information. Care Treatment., joubert syndrome. New Search. Health Extra Menu. http://www.clevelandclinic.org/healthextra/do-query.asp?TopicId=1314

17. 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)

18. Health Information Resource Database: Joubert Syndrome Foundation, Inc joubert syndrome Foundation, Inc. Contact Information. Cheryl Duquette 6931 SouthCarlinda Columbia, MD 21046. Abstract. The joubert syndrome Foundation, Inc. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2531

19. Joubert Syndrome Subject joubert syndrome Topic Area Neurology General Forum The Neurology andNeurosurgery Forum Question Posted By Cathy on Tuesday, September 16, 1997 http://www.medhelp.org/forums/neuro/archive/1661.html

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Joubert Syndrome Topic Area: Neurology - General Forum: The Neurology and Neurosurgery Forum Question Posted By: Cathy on Tuesday, September 16, 1997 Posted by CCF Neurology MD on September 19, 1997 at 03:00:01: In Reply to: Joubert Syndrome posted by Cathy on September 16, 1997 at 17:37:14: : My two year old son has had several neurological problems since birth, with no diagnosis. In March of 97 he had an MRI done. The Impression was, Moderate enlargement of Lateral Ventricles, suggestion of reduced cerebral white matter. Cerebellar Malformation, with hypoplasia of the interior cerebellar vermis and relative enlargement of the cerebellar hemispheres. It appears to be an incomplete Joubert Syndrome. Please help me understand this My son is very smart. He does not talk or walk, but understands what we say. Is it possible to have a mild case of Joubert Syndrome? If so, what does this say for his

20. Joubert Syndrome Articles, Support Groups, And Resources joubert syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). joubert syndrome. http://www.medhelp.org/HealthTopics/Joubert_Syndrome.html

[Health Topics A-Z] A B C D ... Z Joubert Syndrome Ask The Doctor Forums Joubert Syndrome (Neurology and Neurosurgery Forum) Support Groups: Joubert Syndrome Foundation [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

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