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
Bachmann-Gagescu R et al: Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 182(1):229-49, 2020
Radha Rama Devi A et al: Clinical and molecular diagnosis of Joubert syndrome and related disorders. Pediatr Neurol. 106:43-9, 2020
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
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
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
Wang SF et al: Review of ocular manifestations of Joubert syndrome. Genes (Basel). 9(12), 2018
Xiang J et al: Prenatal diagnosis and genetic analysis of a fetus with Joubert syndrome. Biomed Res Int. 2018:7202168, 2018
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
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
Bader I et al: MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet. 59(8):386-91, 2016
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
Roosing S et al: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 53(9):608-15, 2016
Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
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
Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
İncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
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
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
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
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KEY FACTS
Terminology
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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
Bachmann-Gagescu R et al: Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 182(1):229-49, 2020
Radha Rama Devi A et al: Clinical and molecular diagnosis of Joubert syndrome and related disorders. Pediatr Neurol. 106:43-9, 2020
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
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
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
Wang SF et al: Review of ocular manifestations of Joubert syndrome. Genes (Basel). 9(12), 2018
Xiang J et al: Prenatal diagnosis and genetic analysis of a fetus with Joubert syndrome. Biomed Res Int. 2018:7202168, 2018
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
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
Bader I et al: MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet. 59(8):386-91, 2016
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
Roosing S et al: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 53(9):608-15, 2016
Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
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
Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
İncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
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
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
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
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