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Joubert syndrome
Background
Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry Hypotonia), ataxia (lack of muscle control) and difficulty controlling oculomotor apraxia (horizontal eye movements). Other symptoms include hyperpnea (abnormal breathing patterns), kidney abnormalities (see entry Kidney disease) and a characteristic facial appearance. Individuals with Joubert syndrome may show some or all of these features and their severity may vary. The major investigation finding is underdevelopment of the cerebellar vermis (a narrow, worm-like structure between the hemispheres of the cerebellum) and brain stem on a magnetic resonance imaging (MRI) scan.
