Joubert syndrome
Background
Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry, Hypotonia), lack of muscle control (ataxia) and difficulty controlling horizontal eye movements (oculomotor apraxia). Other symptoms include abnormal breathing patterns (hyperpnea), kidney abnormalities and a characteristic facial appearance. Individuals with Joubert syndrome may show some or all of these features and, in addition, may be differently affected by the severity of symptoms.