Ciliopathies are a group of phenotypically diverse disorders caused by primary cilium defects. As the primary cilium is ubiquitous in mammalian tissues, ciliopathies have wide-ranging, multisystem effects. Joubert syndrome is one such disorder. It is characterized by brain anomalies such as cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa. These findings give the appearance of a molar tooth sign on a brain MRI. Symptoms of the disorder include cerebellar ataxia, oculomotor apraxia, hypotonia, breathing difficulties, abnormal eye and tongue movements and intellectual disability. Other symptoms that may be associated with the disorder include retinal dystrophy, renal disease, liver fibrosis and polydactyly of the hands and feet. The congenital syndrome affects infants and is usually diagnosed right after birth.
Treatment of the disorder depends on the severity of symptoms. It is focused mainly on physical, occupational and speech therapy as well as infant stimulation.