Joubert Syndrome is a rare genetic disorder that affects the development of the brain. It is characterized by a distinctive brain malformation known as the "molar tooth sign" on brain imaging. This condition primarily affects the cerebellum, which is responsible for coordinating movement, balance, and posture.
The prevalence of Joubert Syndrome is estimated to be around 1 in 80,000 to 1 in 100,000 live births. However, due to underdiagnosis and misdiagnosis, the actual prevalence may be higher. It is considered a relatively rare disorder, but its true frequency is difficult to determine accurately.
Joubert Syndrome can present with a wide range of symptoms and severity, including intellectual disability, breathing abnormalities, abnormal eye movements, kidney and liver problems, and developmental delays. The condition can vary significantly from person to person, making it challenging to predict the exact prognosis and long-term outcomes.
Research and advancements in genetic testing have contributed to a better understanding of Joubert Syndrome. However, due to its rarity, there is still much to learn about the condition, including its underlying causes and potential treatment options.