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Joubert Syndrome
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Joubert syndrome and related disorders (JSRD)
                • Autosomal recessive genetic disorders with impaired ciliary function
                • 6 subtypes, all have molar tooth sign
                  • Some dispute in literature regarding nomenclature as very heterogeneous phenotype
              • Requirements for diagnosis of classic Joubert syndrome
                • Hindbrain malformation presenting as molar tooth sign on MR
                • Intellectual impairment
                • Hypotonia
              • One of ciliopathies
                • Group of hereditary defects of primary (nonmotile) cilia causing a wide range of overlapping syndromes involving liver, kidneys, multiple organ systems
                • Primary cilium has many key roles in embryonic development, inherited diseases

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  Selected References

                                  1. Quarello E et al: Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 43(2):227-32, 2014
                                  2. Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
                                  3. ─░ncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
                                  4. Vogel TW et al: Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst. 28(7):1109-12, 2012
                                  5. Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
                                  6. Poretti A et al: Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics. 42(4):170-4, 2011
                                  7. Saleem SN et al: Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol. 31(3):424-9, 2010
                                  8. Parisi MA: Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 151C(4):326-40, 2009
                                  9. Aslan H et al: Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound. 36(9):576-80, 2008
                                  10. Valente EM et al: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 51(1):1-23, 2008
                                  11. Baala L et al: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 80(1):186-94, 2007
                                  12. Fluss J et al: Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 21(4):320-4, 2006
                                  13. Doherty D et al: Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 25(6):442-7, 2005
                                  14. Gleeson JG et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 125(2):125-34; discussion 117, 2004
                                  15. Hodgkins PR et al: Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 46(10):694-9, 2004
                                  16. Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14(9):583-90; discussion 590-1, 1999
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Definitions

                                              • Joubert syndrome and related disorders (JSRD)
                                                • Autosomal recessive genetic disorders with impaired ciliary function
                                                • 6 subtypes, all have molar tooth sign
                                                  • Some dispute in literature regarding nomenclature as very heterogeneous phenotype
                                              • Requirements for diagnosis of classic Joubert syndrome
                                                • Hindbrain malformation presenting as molar tooth sign on MR
                                                • Intellectual impairment
                                                • Hypotonia
                                              • One of ciliopathies
                                                • Group of hereditary defects of primary (nonmotile) cilia causing a wide range of overlapping syndromes involving liver, kidneys, multiple organ systems
                                                • Primary cilium has many key roles in embryonic development, inherited diseases

                                            IMAGING

                                            • Ultrasonographic Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Gross Pathologic & Surgical Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Consider

                                                                  Selected References

                                                                  1. Quarello E et al: Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 43(2):227-32, 2014
                                                                  2. Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
                                                                  3. ─░ncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
                                                                  4. Vogel TW et al: Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst. 28(7):1109-12, 2012
                                                                  5. Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
                                                                  6. Poretti A et al: Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics. 42(4):170-4, 2011
                                                                  7. Saleem SN et al: Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol. 31(3):424-9, 2010
                                                                  8. Parisi MA: Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 151C(4):326-40, 2009
                                                                  9. Aslan H et al: Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound. 36(9):576-80, 2008
                                                                  10. Valente EM et al: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 51(1):1-23, 2008
                                                                  11. Baala L et al: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 80(1):186-94, 2007
                                                                  12. Fluss J et al: Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 21(4):320-4, 2006
                                                                  13. Doherty D et al: Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 25(6):442-7, 2005
                                                                  14. Gleeson JG et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 125(2):125-34; discussion 117, 2004
                                                                  15. Hodgkins PR et al: Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 46(10):694-9, 2004
                                                                  16. Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14(9):583-90; discussion 590-1, 1999