Current approaches to the diagnosis and management of patients with Joubert syndrome

Abstract

Joubert syndrome is a rare hereditary ciliopathy classically characterized by a triad of clinical symptoms: irregular breathing, hypotonia, and developmental delay. Possible manifestations may also include polycystic kidney disease, congenital hepatic fibrosis, retinal dystrophy, and musculoskeletal anomalies such as polydactyly and skeletal dysplasia. The incidence of Joubert syndrome in childhood is 1:55,000–200,000. The presence of the “molar tooth sign” on brain MRI is a required diagnostic criterion. To date, about 40 genes have been identified, mutations in which explain more than 90% of Joubert syndrome cases. This article presents current multidisciplinary approaches to the diagnosis and management of patients with this pathology in order to initiate timely and proper correction and improve outcomes. Key words: Joubert syndrome, ciliopathy, molar tooth sign, cerebellar hypoplasia, facial dysmorphism, ataxia, motor disorders, retina, kidneys, liver