GTR Home > Conditions/Phenotypes > Joubert syndrome 6

Disease characteristics

Excerpted from the GeneReview: Joubert Syndrome and Related Disorders
Classic Joubert syndrome 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. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Available tests

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Associated genes

Clinical features

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  • Intellectual disability
  • Molar tooth sign on MRI
  • Cerebellar vermis hypoplasia
  • Nephronophthisis
  • Retinal degeneration
  • Chorioretinal coloboma
  • Blindness
  • Oculomotor apraxia
  • Ataxia
  • Muscular hypotonia
  • Global developmental delay
  • Hepatic fibrosis
  • Bile duct proliferation
  • Thickened superior cerebellar peduncle
  • Stage 5 chronic kidney disease
  • Breathing dysregulation
  • Elongated superior cerebellar peduncle
  • Enlarged fossa interpeduncularis
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