Joubert Syndrome is a rare genetic disorder that affects the development of the brain. It is characterized by abnormal brain development, including an abnormally large cerebellum, a part of the brain that is important for controlling movement and coordination. Symptoms of Joubert Syndrome can include difficulty with balance and coordination, intellectual disability, breathing problems, and abnormal eye movements.

The most common symptoms of Joubert Syndrome include:

-Delayed motor development
-Poor coordination
-Developmental delay
-Intellectual disability
-Abnormal breathing patterns
-Abnormal eye movements
-Abnormal posture
-Abnormal gait
-Frequent falls
-Seizures
-Abnormal facial features
-Kidney and liver abnormalities
-Sleep disturbances
-Feeding difficulties
-Hearing loss
-Vision problems

Joubert Syndrome is a rare genetic disorder caused by mutations in one of several genes. The most common cause is a mutation in the AHI1 gene, which is responsible for the development of the cerebellum, a part of the brain that controls movement and coordination. Other genes that have been linked to Joubert Syndrome include CEP290, TMEM67, and RPGRIP1L.

The treatments for Joubert Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and helping the individual reach their highest potential. This may include physical, occupational, and speech therapy, as well as medications to help with seizures, breathing, and other issues. Surgery may be necessary to correct certain physical abnormalities. Additionally, genetic counseling and support services may be beneficial.

The primary risk factor for Joubert Syndrome is a family history of the disorder. Other risk factors include consanguinity (being related to one's partner) and advanced maternal age.

There is no cure for Joubert Syndrome, but medications can be used to manage the symptoms. These medications may include diuretics to reduce fluid buildup in the brain, muscle relaxants to reduce muscle spasms, and anticonvulsants to control seizures. Physical, occupational, and speech therapy can also help improve motor skills, communication, and daily living activities.