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Joubert syndrome and related disorders

MONDO:0015369

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.

Also known as: JSRD, Joubert syndrome and related disorders

20 clinical trials for this condition and its sub-types.

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Sub-types

COACH syndrome (1) Joubert syndrome with oculorenal defect (1) COACH syndrome 1 (0) COACH syndrome 2 (0) COACH syndrome 3 (0) Joubert syndrome 14 (0) Joubert syndrome 15 (0) Joubert syndrome 16 (0) Joubert syndrome 2 (0) Joubert syndrome 20 (0) Joubert syndrome 21 (0) Joubert syndrome 28 (0) Joubert syndrome 3 (0) Joubert syndrome 5 (0) Joubert syndrome 9 (0) Joubert syndrome with Jeune asphyxiating thoracic dystrophy (0) Joubert syndrome with ocular defect (0) Short-rib thoracic dysplasia 14 with polydactyly (0)

Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Neurodegenerative disease (182) Brain disorder (131) Central nervous system disorder (115) Movement disorder (106) Cerebellar ataxia (39) Human disease (15) Inherited neurodegenerative disorder (10)
Trials to join now! 13 Not yet recruiting 2 Not yet finished but already full! 3 Completed 2
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