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, 0 tagged with Joubert syndrome and related disorders itself.

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Part of

↑ Autosomal recessive congenital cerebellar ataxia (7)

Sub-types of Joubert syndrome and related disorders

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

Including sub-types (20) Tagged with Joubert syndrome and related disorders (0)

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