Joubert Bolthauser Syndrome

It is possible that the major title of the record Joubert Syndrome is not the name you anticipated. Please check the basic synonyms specifying to discover the alternate name(s) as well as problem neighborhood(s) covered by this record.


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

Condition Subdivisions

  • None

General Discussion
Joubert syndrome is an autosomal recessive congenital disease that influences the area of the human brain that regulates equilibrium and also coordination. This problem is defined by a particular finding on an MRI called a “molar tooth indicator” where the cerebellar vermis of the human brain is missing or underdeveloped and the brain stem is abnormal. The most typical attributes of Joubert disorder are absence of muscle control (ataxia), uncommon breathing patterns (hyperpnea), sleep apnea, irregular eye and also tongue motions and reduced muscular tissue tone.

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