Details of Disease
General Information of Disease (ID: DIS04FVG)
| Disease Name | Joubert syndrome and related disorders | |||||
|---|---|---|---|---|---|---|
| Synonyms | JSRD; Joubert syndrome and related disorders | |||||
| Definition |
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.
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