link
Bookmarks
Joubert Syndrome
Anne Kennedy, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
1
1
0
2

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 clinical subtypes, all have molar tooth sign
                • 20 subtypes based on gene mutations
              • 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 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

                                  • Reporting Tips

                                    Selected References

                                    1. Bachmann-Gagescu R et al: Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 182(1):229-49, 2020
                                    2. Radha Rama Devi A et al: Clinical and molecular diagnosis of Joubert syndrome and related disorders. Pediatr Neurol. 106:43-9, 2020
                                    3. Brooks BP et al: Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center. Ophthalmology. 125(12):1937-52, 2018
                                    4. Linpeng S et al: Diagnosis of Joubert syndrome 10 in a fetus with suspected Dandy-Walker variant by WES: a novel splicing mutation in OFD1. Biomed Res Int. 2018:4032543, 2018
                                    5. Strongin A et al: Characteristics of liver disease in 100 individuals with Joubert syndrome prospectively evaluated at a single center. J Pediatr Gastroenterol Nutr. 66(3):428-35, 2018
                                    6. Wang SF et al: Review of ocular manifestations of Joubert syndrome. Genes (Basel). 9(12), 2018
                                    7. Xiang J et al: Prenatal diagnosis and genetic analysis of a fetus with Joubert syndrome. Biomed Res Int. 2018:7202168, 2018
                                    8. Summers AC et al: Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. Am J Med Genet A. 173(7):1796-1812, 2017
                                    9. Yu X et al: Prenatal diagnosis of Joubert syndrome by ultrasound and magnetic resonance imaging - report of three cases. Taiwan J Obstet Gynecol. 56(3):408-9, 2017
                                    10. Bader I et al: MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet. 59(8):386-91, 2016
                                    11. Quarello E: Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 48(4):532-4, 2016
                                    12. Roosing S et al: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 53(9):608-15, 2016
                                    13. Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
                                    14. 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
                                    15. Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
                                    16. ─░ncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
                                    17. 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
                                    18. 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
                                    19. 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
                                    Related Anatomy
                                    Loading...
                                    Related Differential Diagnoses
                                    Loading...
                                    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 clinical subtypes, all have molar tooth sign
                                                  • 20 subtypes based on gene mutations
                                                • 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 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

                                                                    • Reporting Tips

                                                                      Selected References

                                                                      1. Bachmann-Gagescu R et al: Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 182(1):229-49, 2020
                                                                      2. Radha Rama Devi A et al: Clinical and molecular diagnosis of Joubert syndrome and related disorders. Pediatr Neurol. 106:43-9, 2020
                                                                      3. Brooks BP et al: Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center. Ophthalmology. 125(12):1937-52, 2018
                                                                      4. Linpeng S et al: Diagnosis of Joubert syndrome 10 in a fetus with suspected Dandy-Walker variant by WES: a novel splicing mutation in OFD1. Biomed Res Int. 2018:4032543, 2018
                                                                      5. Strongin A et al: Characteristics of liver disease in 100 individuals with Joubert syndrome prospectively evaluated at a single center. J Pediatr Gastroenterol Nutr. 66(3):428-35, 2018
                                                                      6. Wang SF et al: Review of ocular manifestations of Joubert syndrome. Genes (Basel). 9(12), 2018
                                                                      7. Xiang J et al: Prenatal diagnosis and genetic analysis of a fetus with Joubert syndrome. Biomed Res Int. 2018:7202168, 2018
                                                                      8. Summers AC et al: Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. Am J Med Genet A. 173(7):1796-1812, 2017
                                                                      9. Yu X et al: Prenatal diagnosis of Joubert syndrome by ultrasound and magnetic resonance imaging - report of three cases. Taiwan J Obstet Gynecol. 56(3):408-9, 2017
                                                                      10. Bader I et al: MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet. 59(8):386-91, 2016
                                                                      11. Quarello E: Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 48(4):532-4, 2016
                                                                      12. Roosing S et al: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 53(9):608-15, 2016
                                                                      13. Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
                                                                      14. 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
                                                                      15. Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
                                                                      16. ─░ncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
                                                                      17. 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
                                                                      18. 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
                                                                      19. 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