Email a Friend
Print Article
Joubert Syndrome
Important
It is possible that the main title of the report Joubert Syndromeis not the name you expected.
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
info@jsfrcd.org
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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
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)721-2809National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/
Genetic Alliance
4301 Connecticut Avenue NW
Suite 404
Washington
DC
20008-2304
USA
Tel: (202)966-5557
Fax: (202)966-8553
800: (800)336-4363
membership@geneticalliance.org
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
jogleeson@ucsd.eduMUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
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.
WebMD Medical Reference from the National Organization of Rare Disorders
-
1
-
2
-
3
-
4
-
5
-
6
-
7
-
8
-
9
-
10
-
11
-
12
Sleep expert helps new moms get more rest.
Most Popular
WebMD Special Sections
