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: membership@geneticalliance.org
      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: jogleeson@ucsd.edu
      Home page: N/A
    • Joubert Syndrome Foundation and Related Cerebellar Disorders
      None
      None None None
      Phone #: N/A
      800 #: --
      e-mail: info@jsfrcd.org
      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: mums@netnet.net
      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: getinfo@madisonsfoundation.org
      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: braininfo@ninds.nih.gov
      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: info@thearc.org
      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