Joubert syndrome type 7

Joubert syndrome type 7

An autosomal recessive disorder (OMIM:611560) characterised by cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities, 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 RPGRIP1L, which encodes a protein that may be involved in apoptosis, craniofacial development, patterning of limbs and formation of the left-right axis.