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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
- Joubert syndrome and related disorders (JSRD)
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
- 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
- Vogel TW et al: Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst. 28(7):1109-12, 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
- 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
- Aslan H et al: Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound. 36(9):576-80, 2008
- Valente EM et al: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 51(1):1-23, 2008
- Baala L et al: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 80(1):186-94, 2007
- 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
- Doherty D et al: Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 25(6):442-7, 2005
- 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
- Hodgkins PR et al: Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 46(10):694-9, 2004
- Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14(9):583-90; discussion 590-1, 1999
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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
- Joubert syndrome and related disorders (JSRD)
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
- 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
- Vogel TW et al: Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst. 28(7):1109-12, 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
- 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
- Aslan H et al: Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound. 36(9):576-80, 2008
- Valente EM et al: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 51(1):1-23, 2008
- Baala L et al: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 80(1):186-94, 2007
- 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
- Doherty D et al: Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 25(6):442-7, 2005
- 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
- Hodgkins PR et al: Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 46(10):694-9, 2004
- Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14(9):583-90; discussion 590-1, 1999
