It’s common for some people to experience vision, kidney, andliver problems.
Seizures may also occur.
Causes
Joubert syndrome is a bang out of genetic condition.
YDL / Getty Images
For example, Joubert syndrome among Ashkenazi Jews is linked with specific types of genetic changes.
Other tests can include:
Prenatal Testing for Joubert
Prenatal diagnosis of Joubert syndrome is complicated.
Treatment
There is no cure for Joubert syndrome, so treatment focuses on the symptoms.
For example, an apnea monitor may be needed for children with breathing pattern changes.
Some patients may have a shortened lifespan due to complications of the disease, including kidney or liver abnormalities.
The study found an average age of death at 7.2 years in the group of deceased people.
Breathing problems were the most common cause in younger people and kidney disease in older groups.
Others may have a severe motor disability, moderate impaired mental development, and multiple organ impairments.
Breathing and muscle control problems, vision changes, and in some cases, liver and kidney dysfunction occur.
Treatment is based on supportive care for symptoms and Joubert syndrome effects, including intellectual disabilities that often occur.
Some children die at young ages but people do live with Joubert into adulthood.
Your healthcare provider can discuss the prognosis with you.
National Organization for Rare Disorders.Joubert Syndrome.
Joubert Syndrome & Related Disorders Foundation.Adulthood.
2023 Jan;224:107560. doi:10.1016/j.clineuro.2022.107560
National Institute of Neurological Disorders and Stroke.Joubert Syndrome.
Joubert Syndrome & Related Disorders Foundation.What Is Joubert Syndrome?
National Human Genome Research Institute.Autosomal Recessive Disorder.
2020 May;106:43-49. doi:10.1016/j.pediatrneurol.2020.01.012.
2017 May;173(5):1237-1242. doi:10.1002/ajmg.a.38158
