Joubert syndrome
Definition
Joubert syndrome is a well documented but rare autosomal recessive disorder. The syndrome is characterized by partial or complete absence of the cerebellar vermis (the connective tissue between the two brain hemisperes), causing irregular breathing and severe muscle weakness. Other features of the syndrome include jerky eye movements, abnormal balance and walking, and mental handicap. There may be minor birth defects of the face, hands, and feet.
Description
Marie Joubert (whose name is given to the condition) gave a detailed description of the syndrome in 1969. She wrote about four siblings (three brothers, one sister) in one family with abnormal breathing, jerky eye movements (nystagmus), poor mental development, and ataxia (staggering gait and imbalance). X ray examination...
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