Joubert syndrome

Pathology

• cirrhosis is a variable feature
• also see radiology

Genetics

• autosomal recessive disorder
• several types, genetically heterogeneous
• defects in CEP41 are the cause of Joubert syndrome type 15

Clinical manifestations

• cerebellar ataxia
• oculomotor apraxia
• hypotonia
• neonatal breathing abnormalities
• psychomotor delay
• variable features include:
  • retinal dystrophy
  • renal disease
  • polydactyly

Radiology

• magnetic resonance imaging (MRI)
  • cerebellar vermian hypoplasia/aplasia
  • thickened & reoriented superior cerebellar peduncles
  • abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign)

More general terms

• genetic disease of the central nervous system
• syndrome

More specific terms

• Joubert syndrome 1 (JBTS1)
• Joubert syndrome 14 (JBTS14)
• Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)
• Joubert syndrome 3 (JBTS3)
• Joubert syndrome 4 (JBTS4)
• Joubert syndrome 5 (JBTS5)

Patient information

Joubert syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/213300