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GTR Home > Tests > Joubert Syndrome

Joubert Syndrome

  • GTR Test IDHelp: GTR000553398.6
  • Last updated: 2021-02-05
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Joubert syndrome 27
Offered by Asper Biogene

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from GeneReviews

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cerebellar ataxia
  • Hypotonia
  • Retinopathy
  • Polydactyly
  • Frontal bossing
  • Dilatation of the renal pelvis
  • Global developmental delay
  • Gait ataxia
  • Triangular face
  • Thick lower lip vermilion
  • Axial hypotonia
  • Molar tooth sign on MRI
  • Oculomotor apraxia
  • Intellectual disability
  • Esodeviation
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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