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.
Comprehensive, easy-to-understand information about this condition
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autosomal recessive spinocerebellar ataxia 2
MONDO:0008943
cerebellar ataxia, intellectual disability, and dysequilibrium
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Joubert syndrome with oculorenal defect
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Cayman type cerebellar ataxia
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autosomal recessive spinocerebellar ataxia 17
MONDO:0014503
Joubert syndrome with ocular defect
MONDO:0016364