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Joubert Syndrome

  • Reference work entry
Encyclopedia of Autism Spectrum Disorders

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Synonyms

Joubert-Boltshauser syndrome

Short Description or Definition

Joubert syndrome (JS) is a rare neurodevelopmental disorder defined principally by abnormalities of the cerebellum and brain stem (Kroes et al., 2011; Maria, Boltshauser, Palmer, & Tran, 1999; Parisi, 2009). In addition to classic JS, a number of syndromes which all exhibit the “molar tooth sign” (MTS) on brain imaging are subsumed under the term Joubert Syndrome and Related Disorders (JSRD) and include COACH syndrome (with colobomas, hepatic fibrosis), Senior-Loken syndrome (with kidney disease), Dekaban-Arima syndrome, Varadi-Papp syndrome, and Malta syndrome.

Categorization

JSRD can be classified into six phenotypic subgroups: pure JS, JS with ocular defect, JS with renal defect, JS with oculorenal defects, JS with hepatic defect, and JS with orofaciodigital defects. The JSRD have been considered autosomal recessive based on recurrence risks around 25% and a 1:1 male to female ratio.

Epidemiology

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References and Readings

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Author information

Authors and Affiliations

  1. Thompson Center for Autism and Neurodevelopmental Disorders University of Missouri, 205 Portland Street, 65211, Columbia, MO, USA

    Dr. Janet Farmer Ph.D.

  2. Pediatrics, Medical Genetics & Pathology, The Thompson Center for Autism & Neurodevelopmental Disorders, 205 Portland Street, 65211, Columbia, MO, USA

    Prof. Judith H. Miles M.D., Ph.D.

  3. Thompson Center for Autism & Neurodevelopmental Disorders, 205 Portland Street, 65211, Columbia, MO, USA

    Nicole Takahashi MS (Project Director)

Authors
  1. Dr. Janet Farmer Ph.D.
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  2. Prof. Judith H. Miles M.D., Ph.D.
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  3. Nicole Takahashi MS
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Corresponding author

Correspondence to Janet Farmer Ph.D. .

Editor information

Editors and Affiliations

  1. Irving B. Harris Professor of Child Psychiatry, Pediatrics and Psychology Yale University School of Medicine, Chief, Child Psychiatry Children's Hospital at Yale-New Haven Child Study Center, New Haven, CT, USA

    Fred R. Volkmar (Director, Child Study Center) (Director, Child Study Center)

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Farmer, J., Miles, J.H., Takahashi, N. (2013). Joubert Syndrome. In: Volkmar, F.R. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1698-3_1088

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  • DOI: https://doi.org/10.1007/978-1-4419-1698-3_1088

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-1697-6

  • Online ISBN: 978-1-4419-1698-3

  • eBook Packages: Behavioral Science

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