Joubert Syndrome

It is feasible that the major title of the record Joubert Syndrome is not the name you expected. Please inspect the words listing to find the alternate name(s) as well as disorder neighborhood(s) covered by this report.


  • cerebellooculorenal disorder 1; CORS1
  • cerebelloparenchchymal problem IV domestic
  • Joubert-Bolthauser disorder

Problem Class

  • None

General Conversation
Joubert syndrome is an autosomal recessive genetic disorder that impacts the area of the brain that controls equilibrium and control. This condition is identified by a certain searching for on an MRI called a “molar tooth sign” where the cerebellar vermis of the mind is absent or underdeveloped as well as the mind stem is uncommon. One of the most common features of Joubert syndrome are lack of muscle control (ataxia), irregular breathing patterns (hyperpnea), rest apnea, uncommon eye and also tongue activities and also reduced muscle mass tone.

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