Joubert Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Joubert Syndrome

Synonyms of Joubert Syndrome

Cerebellarparenchymal Disorder IV
Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation
Cerebellar Vermis Aplasia
cerebellooculorenal syndrome 1; CORS1
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

Disorder Subdivisions

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.

Organizations related to Joubert Syndrome

Flannery, David B., M.D.
Vice Chair for Education, Practice Director
Augusta GA 30912
Phone #: 706-721-2809
800 #: --
e-mail: N/A
Home page: N/A
Genetic Alliance
4301 Connecticut Avenue NW
Washington DC 20008-2304
Phone #: 202-966-5557
800 #: 800-336-4363
e-mail: [email protected]
Home page: http://www.geneticalliance.org
Gleeson, Joseph M.D.
Division of Pediatric Neurology
La Jolla CA 92093
Phone #: 858-822-3535
800 #: --
e-mail: [email protected]
Home page: N/A
Joubert Syndrome Foundation and Related Cerebellar Disorders
None
None None None
Phone #: N/A
800 #: --
e-mail: [email protected]
Home page: http://www.jsfrcd.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/

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