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Diseases

Genetic and Rare Diseases Information Center (GARD)

Joubert syndrome


Other Names for this Disease
  • Cerebelloparenchymal disorder 4
  • Cerebellar vermis agenesis
  • Joubert-Boltshauser syndrome
  • JBTS1
  • CPD4
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Overview

Joubert syndrome is disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). Together, these cause the characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability.[1][2][3] Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes. Inheritance is usually autosomal recessive, but rarely it may be X-linked recessive.[1][4][5] Treatment is supportive and depends on the symptoms in each person.[1]
Last updated: 2/15/2016

References

  1. NINDS Joubert Syndrome Information Page. NINDS. January 21, 2016; http://www.ninds.nih.gov/disorders/joubert/joubert.htm.
  2. Overview. Joubert Syndrome & Related Disorders Foundation. 2016; http://jsrdf.org/what-is-js/.
  3. Joubert syndrome. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/joubert-syndrome.
  4. What is Joubert Syndrome?. Hindbrain Malformation Research Program. 2016; http://depts.washington.edu/joubert/joubertsyndrome.php.
  5. Cassandra L. Kniffin. JOUBERT SYNDROME 10; JBTS10. OMIM. December 2, 2015; http://www.omim.org/entry/300804.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Cerebelloparenchymal disorder 4
  • Cerebellar vermis agenesis
  • Joubert-Boltshauser syndrome
  • JBTS1
  • 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.