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Joubert Syndrome: more detail

The Official Parent's Sourcebook on Joubert Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30

Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Kevin, MS, CGC Sweet, Rosalyn, MD Carson-DeWitt, 2005

Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Kevin, MS, CGC Sweet, 2005

Shannadoah: A Journey of Discovery About Dandy Walker, Joubert Syndrome, Helpful Resources and More by Shelley Boulet, 2003-04

lists with details

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/
NINDS Joubert Syndrome Information Page
Information sheet compiled by NINDS.Category Health Conditions and Diseases joubert syndromejoubert 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

Extractions: 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?
Joubert Syndrome
Synonyms, a summary and a list of major features for this disorder.Category Health Conditions and Diseases joubert syndromeView 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

Extractions: 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.
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

Extractions: 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. Joubert Syndrome FAQ Joubert Syndrome Information from the OMIM data base.
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

Extractions: 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
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

Extractions: New Orleans, Louisiana 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.
All About Joey
Offers a discription of Joey's life, his likes and dislikes, his family, and joubert syndrome.
http://www.allaboutjoey.com
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

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

Extractions: Subscribe now >> 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.
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

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

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