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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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Tests & Diagnosis

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How is Joubert syndrome diagnosed?

The diagnosis of Joubert syndrome is based on the presence of characteristic clinical features as well as the MRI finding of the molar tooth sign.[1]

The diagnosis of "classic" or “pure” Joubert syndrome is based on the presence of the following three primary criteria:
  • the molar tooth sign on MRI
  • hypotonia (weak muscle tone) in infancy with later development of ataxia
  • developmental delays / intellectual disability

Additional features often identified in people with Joubert syndrome include an abnormal breathing pattern (alternating tachypnea and/or apnea) and abnormal eye movements.

The term “Joubert syndrome and related disorders” (JSRD) refers to those with Joubert syndrome who have additional findings such as retinal dystrophy, renal (kidney) disease, ocular colobomas, occipital encephalocele (protruding tissue at the back of the skull), fibrosis of the liver, polydactyly, and/or other abnormalities. A significant proportion of people diagnosed with classic Joubert syndrome in infancy or early childhood will eventually have additional findings that represent JSRD.[1]

While mutations in many genes are known to be associated with Joubert syndrome, they are only identified in about 50% of affected people who have genetic testing. Therefore, genetic testing is not required for a diagnosis of Joubert syndrome or JSRD.[1]
Last updated: 7/18/2016

References
  1. Melissa Parisi and Ian Glass. Joubert Syndrome and Related Disorders. GeneReviews. April 11, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1325/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.