Joubert Syndrome

Joubert syndrome is a rare autosomal recessive ciliopathy characterized by cerebellar vermis hypoplasia, brainstem malformations, and the molar tooth sign on MRI. Clinical features include hypotonia, developmental delay, abnormal eye movements, and breathing abnormalities. Pathophysiology involves defective ciliary function affecting neuronal migration and brainstem-cerebellar connectivity. Diagnosis relies on neuroimaging and genetic testing. Management is supportive, including physiotherapy, speech therapy, and respiratory care; prognosis varies with severity of brain malformations and organ involvement.