Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Joubert syndrome


Other Names for this Disease

  • Cerebellar vermis agenesis
  • Cerebellooculorenal syndrome 1
  • Cerebelloparenchymal disorder 4
  • CORS1
  • CPD4
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Joubert syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The University of Washington's hindbrain malformation research program invites individuals with this condition to participate in their research program. Click on the link for more information on how to participate in their research study.
Other Names for this Disease
  • Cerebellar vermis agenesis
  • Cerebellooculorenal syndrome 1
  • Cerebelloparenchymal disorder 4
  • CORS1
  • CPD4
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.