Glossary for Joubert Syndrome

• Abnormal eye movements: Uncontrollable eye movements are involuntary, rapid, and repetitive movement of the eyes.
• Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
• Brain conditions: Medical conditions that affect the brain
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Coloboma chorioretinal cerebellar vermis aplasia: A very rare syndrome characterized by an eye anomaly (gap in eye structures such as choroids and retina) and abnormal development of the midline structure of the brain (cerebellar vermis aplasia).
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Retinitis Pigmentosa: Retinitis pigmentosa is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties that can lead to central vision loss.
• Sleep apnea: Childhood obstructive sleep apnea (OSA) syndrome is characterized by episodic upper airway obstruction that occurs during sleep.
• Tongue symptoms: Symptoms affecting the tongue.

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