Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities. It is currently included in the malformation spectrum of cerebello-oculo-renal syndromes (CORS). An image known as a "molar tooth sign" is typically observed in cereb...

BACKGROUND Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in...

Projecting from most cell surfaces, cilia serve as important hubs for sensory and signaling processes have been linked to a variety of human disorders, including Bardet-Biedl Syndrome (BBS), Meckel-Gruber (MKS), Nephronophthisis (NPHP), Joubert Syndrome, these diseases are collectively known ciliopathy. DCDC2 is ciliopathy protein that localizes cilia; nevertheless, our understanding the role i...