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
cerebellooculorenal syndrome 1; CORS1

Disorder Subdivisions

None

General Discussion

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone.

Resources

Joubert Syndrome Foundation and Related Cerebellar Disorders

Email: info@jsfrcd.org
Internet: http://www.jsfrcd.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Flannery, David B., M.D.
Vice Chair for Education, Practice Director
Chief, Section of Genetics, Department of Pediatrics
Medical College of Georgia
1120 15th Street
Augusta, GA 30912
Tel: (706)721-2809

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Genetic Alliance
4301 Connecticut Avenue NW
Suite 404
Washington, DC 20008-2304
USA
Tel: 2029665557
Fax: 2029668553
Tel: 8003364363
Email: membership@geneticallinace.org
Internet: http://www.geneticalliance.org

Gleeson, Joseph M.D.
Division of Pediatric Neurology
Department of Neurosciences MTF 324
University of CA, San Diego, School of Medicine
9500 Gilman Dr
La Jolla, CA 92093
Tel: (858)822-3535
Email: jogleeson@ucsd.edu

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 2/12/2008
Copyright 1986, 1988, 1990, 1992, 1997, 1999, 2007, 2008 National Organization for Rare Disorders, Inc.

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