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Joubert Syndrome

Abstract

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NORD is very grateful to Joseph G. Gleeson, MD, Professor, Neurogenetics Laboratory, Department of Neurosciences and Pediatrics; Investigator, Howard Hughes Medical Institute, University of California, San Diego, for assistance in the preparation of this report.

Synonyms of Joubert Syndrome

  • cerebellooculorenal syndrome 1; CORS1
  • cerebelloparenchchymal disorder IV familial
  • Joubert-Bolthauser syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone.

Organizations related to Joubert Syndrome

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