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Genetic and Rare Diseases Information Center (GARD)

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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.

Overview

Joubert syndrome is a disorder that affects many parts of the body.  The signs and symptoms vary among affected individuals, even among members of the same family.  The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI).  Most infants with Joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  Individuals with Joubert syndrome can have delayed development and mild to severe intellectual disabilities.   Distinctive facial features are also characteristic of Joubert syndrome.  Mutations in one of 10 known genes have been found in about half of all cases with Joubert syndrome and related disorders.  In the remaining cases, the genetic cause is unknown.  This condition typically has an autosomal recessive pattern of inheritance.  Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern.[1][2]
Last updated: 8/19/2011

References

  1. Joubert syndrome. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/joubert-syndrome. Accessed 2/1/2011.
  2. Parisi, MD, PHD, Glass, MD. Joubert syndrome. GeneReviews. March 8, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1325/. Accessed 2/1/2011.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Joubert syndrome. Click on the link to view a sample search on this topic.
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.