Browse

Explore conditions, clinical trials, and the organisations running them.

Up to: Autosomal recessive congenital cerebellar ataxia

Joubert syndrome and related disorders

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

0 trials tagged with this condition →

COACH syndrome 1 trial Sub-types →
Joubert syndrome with oculorenal defect 1 trial Sub-types →
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 0 trials Sub-types →
Joubert syndrome with ocular defect 0 trials Sub-types →