Joubert syndrome type 5

Joubert syndrome type 5

An autosomal recessive disorder (OMIM:610188) characterised by ataxia, oculomotor apraxia, hypotonia, neonatal breathing defects, psychomotor delay, retinal dystrophy and renal disease.

Imaging
Cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles and abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). 

Molecular pathology
Caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.