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Keyword - Joubert syndrome (KW-0979)

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Broader

Definition

Protein which, if defective, causes Joubert syndrome, an autosomal recessive multisystem disorder characterized by cerebellar ataxia, developmental delay, hypotonia, neonatal breathing abnormalities and oculomotor apraxia. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of the 'molar tooth sign' on transaxial slices. A wide clinical variability with a marked variation in severity and inconsistent presence of the following features is observed: episodic apnea-hyperpnea, abnormal eye movements, occipital meningoencephalocele, polydactyly, nephronophthisis or cystic dysplasia of the kidney, chorioretinal coloboma and retinal dysplasia. The variable association of ocular and renal abnormalities with cerebellar features typical of Joubert syndrome defines the cerebello-oculo-renal syndromes (CORSs).

Synonyms

  • Cerebellar vermis agenesis
  • Cerebelloparenchymal disorder IV
  • CPD IV
  • JBTS
  • Joubert-Boltshauser syndrome
  • JS

Category

Disease

Graphical

CiliopathyJoubert syndromeDisease