Brain Anomalies

Molar tooth sign (MTS). MRI findings comprise the following:

• An abnormally deep interpeduncular fossa
• Prominent, straight, and thickened superior cerebellar peduncles
• Hypoplasia of the vermis (the midline portion of the cerebellum) (See Figure 1.)

Figure 1.

Molar tooth sign (MTS) in Joubert syndrome (JS) A. Axial MRI image through the cerebellum and brain stem of a control showing intact cerebellar vermis (outlined by white arrows)

An additional proposed near-universal feature is superior cerebellar dysplasia characterized by absence of the superior cerebellar peduncle decussation, which can be identified on fractional anisotropy imaging [Bachmann-Gagescu et al 2020, Gana et al 2022].

To ensure the most accurate imaging to establish the diagnosis of MTS, both high-quality MRI with thin (≤3 mm) axial cuts through the posterior fossa from the midbrain to the pons and standard axial, coronal, and sagittal cuts are recommended [Bachmann-Gagescu et al 2020, Gana et al 2022].

Note: (1) Because a subset of individuals with pathogenic variants in JS-associated genes (see Genetic Causes) have MRI findings without obvious MTS, the spectrum of brain findings in JS likely extends beyond MTS. (2) Conversely, cerebellar and brain stem malformations identified on brain MRI may be interpreted as "mild MTS," leading to an erroneous diagnosis of JS [Gana et al 2022].

Less common brain anomalies observed with MTS include the following [Bachmann-Gagescu et al 2020, Gana et al 2022]:

• Cerebellar hemisphere enlargement
• Malrotation of the hippocampi
• Ventriculomegaly
• Dandy-Walker malformation
• Dysgenesis of the corpus callosum
• Polymicrogyria
• Heterotopia
• Occipital encephalocele (See Figure 2A.)
• Abnormal brain stem and/or hypothalamic hamartomas, particularly in those with oral-facial-digital features [Poretti et al 2011]

Figure 2.

Clinical features in Joubert syndrome (JS) A. Facial features in a girl with JS at age 27 months showing broad forehead, arched eyebrows, strabismus, eyelid ptosis (on right eye), and open mouth configuration indicating reduced facial tone

Clinical Findings

Neonatal period and early infancy. Clinical findings in the neonatal period and early infancy include hypotonia, abnormal respiratory pattern (such as apnea and/or tachypnea that may alternate), and abnormal eye movements, including nystagmus and/or oculomotor apraxia (OMA) (i.e., difficulty in smooth ocular pursuit with jerkiness in gaze and tracking). OMA can sometimes manifest as head thrusting (as a compensatory mechanism for the inability to initiate saccades) or as horizontal head titubation (i.e., a "no-no" head tremor).

Children and adults. Clinical findings that are identified or emerge with time include cognitive impairment and neurologic findings, as well as involvement of the eyes, kidney, liver, and skeleton.

Developmental delay / intellectual disability. Almost all individuals with JS manifest hypotonia and motor delays during infancy and early childhood, frequently evolving to ataxia with age. Abnormal eye movements and abnormal respiratory control are also observed in many, although these may be subtle. Cognition is impaired in most, although a minority of individuals have cognition in the normal range. Ideally, neuropsychological and school evaluations should examine both full-scale intelligence quotient (FSIQ) and the generalized ability index (GAI) or similar measures to best reflect the individual's intellectual and functional abilities. Difficulties measuring IQ in the presence of significant motor, communication, and visual impairments may be encountered. The range of neurodevelopmental outcomes is very broad. Speech production is impacted out of proportion to language comprehension due to oral motor apraxia. Monitoring of development coupled with standard therapies (physical, occupational, and speech-language) and educational interventions aim to build on individual strengths and address specific weaknesses. Ataxia and oculomotor apraxia often improve as children mature. Most children with JS eventually walk independently, although a subset require assistance such as walkers and wheelchairs for ambulation. Adults with JS are much less well studied, but cognitive and functional impacts are lifelong [Bachmann-Gagescu et al 2020].

Disordered breathing. Children and adults are at increased risk for sleep-related apnea and central and obstructive sleep-disordered breathing, especially if obese [Bachmann-Gagescu et al 2020]. Sleep-disordered breathing can worsen neurobehavioral/psychiatric manifestations and if untreated can result in pulmonary hypertension [Ju-Wang et al 2025].

Oral motor dysfunction may include the following:

• Dysphagia that may manifest as excess drooling and feeding difficulties predisposing to aspiration and respiratory complications. A substantial minority of individuals require gastrostomy tube placement.
• Speech apraxia, a nearly universal finding that may account (at least in part) for the discrepancy between expressive and receptive communication abilities [Hodgkins et al 2004, Braddock et al 2006].
• Dystonic movements, which often include facial grimacing and/or biting the tongue and cheeks (perhaps self-injurious), for which there are no established treatments [Bachmann-Gagescu et al 2020].

Other neurologic findings can include the following:

• Early hypotonia often evolves with time to become cerebellar ataxia that frequently improves with age [Bachmann-Gagescu et al 2020]
• Neurobehavioral/psychiatric manifestations include inattention, hyperactivity, stereotypies, emotional lability, anxiety, self-injury, aggression, and autism [Bachmann-Gagescu et al 2020]
• Seizures of all types (10% of individuals), which require standard neurologic evaluation and treatment [Bachmann-Gagescu et al 2020, Gana et al 2022]
• Temperature dysregulation (prevalence unknown), including episodic unexplained fevers and heat intolerance that can be associated with decreased activity during hot weather

Eyes. Other ophthalmologic findings can include the following:

• Some degree of functional visual impairment from OMA, even when visual acuity is retained. OMA often improves over time. Ptosis, strabismus, refractive errors, and/or amblyopia are also common [Brooks et al 2018].
• Chorioretinal coloboma and optic nerve coloboma (17% of individuals) and optic atrophy [Bachmann-Gagescu et al 2020]
• Retinal dystrophy (30% of individuals) ranging from congenital retinal blindness diagnosed in infancy with an attenuated or extinguished electroretinogram (ERG) (i.e., Leber congenital amaurosis) to retinitis pigmentosa (see Nonsyndromic Retinitis Pigmentosa), a slowly progressive degeneration that can result in nyctalopia (night blindness) or eventual blindness after the second decade [Coene et al 2009, Bachmann-Gagescu et al 2020]
• Both chorioretinal coloboma and retinal dystrophy (2%-3% of individuals) [Bachmann-Gagescu et al 2015, Brooks et al 2018]
• Unilateral or bilateral ptosis (19% of individuals) [Bachmann-Gagescu et al 2015]

Kidney disease (23%-38% of individuals) in JS was traditionally described as "cystic dysplasia" and "nephronophthisis" (see Nephronophthisis-Related Ciliopathies). However, these two findings now appear to be part of a continuum in which the manifestations vary by the stage of kidney disease [Dempsey et al 2017, Fleming et al 2017, Bachmann-Gagescu et al 2020, Gana et al 2022].

In early-onset kidney disease, findings may be consistent with cystic dysplasia (i.e., multiple variably sized cysts in immature kidneys with fetal lobulations). In the first or second decade of life, kidney disease often presents as a urine-concentrating defect that results in polyuria and polydipsia (i.e., juvenile nephronophthisis) that may go undetected until manifestations of end-stage kidney disease (ESKD) become evident, such as fatigue, growth restriction, and/or anemia. Ultrasound examination typically shows small, scarred kidneys with increased echogenicity and occasional cysts at the corticomedullary junction.

Progression to ESKD, occurring on average by age 13 years, is the leading cause of death in individuals with JS after age one year [Dempsey et al 2017].

Hepatic involvement is typically congenital hepatic fibrosis characterized by developmental anomalies of biliary ductal plate remodeling with elevated transaminases and gamma-glutamyl transferase(GGT) with preserved hepatocellular (synthetic) function. Eventually portal hypertension can result in hepatomegaly, splenomegaly, hypersplenism, and gastroesophageal varices in up to 13% of individuals [Strongin et al 2018, Bachmann-Gagescu et al 2020, Gana et al 2022].

Skeletal involvement (seen in 13%-15% of individuals)

• Although various skeletal features and related short-rib thoracic dysplasias have been reported in JS, it is rare for this to be the primary presentation [Lehman et al 2010, Halbritter et al 2013, Tuz et al 2014, Shaheen et al 2015].
• Neuromuscular scoliosis (minimal prevalence of 5%) requires monitoring and may require further intervention [Bachmann-Gagescu et al 2020].
• Polydactyly (reported in 8%-19% of individuals) can be unilateral or bilateral and can involve hands and/or feet [Doherty 2009, Brancati et al 2010]. It can be postaxial (see Figure 2B), preaxial (see Figure 2C), or mesoaxial.

Infections. A small subset of individuals (typically those with OFD1-related JS) experience frequent sinopulmonary infections consistent with a primary ciliary dyskinesia (i.e., motile ciliopathy) [Coene et al 2009, Hannah et al 2019]. These infections may be severe and require hospitalization.

Less common and variable findings

• Endocrine abnormalities (seen in <5% of individuals) include panhypopituitarism, isolated growth hormone deficiency, or thyroid hormone deficiency [Bachmann-Gagescu et al 2015, Akcan et al 2019, Bachmann-Gagescu et al 2020].
• Laterality defects (seen in <1% of individuals) include situs inversus [Bachmann-Gagescu et al 2015].
• Specific craniofacial findings of oral-facial-digital syndrome type 1 (OFD1) (cleft palate, oral frenulae, and tongue lobulations or hamartomas) may be present in OFD1-related JS (Figure 2E) [Gana et al 2022].

Nomenclature

Multiple clinical subtypes of JS have been proposed in the past to designate specific phenotypes in individuals with MTS. These designations include the following:

• Joubert syndrome and related disorders, used as a collective term encompassing the previously used designations:
  • Cerebellar-oculo-renal syndrome (CORS)
  • Arima syndrome (Joubert syndrome with oculorenal disease [retinopathy and cystic dysplastic kidneys])
  • COACH syndrome (colobomas, cognitive impairment ["oligophrenia"], ataxia, cerebellar vermis hypoplasia, and hepatic fibrosis)
  • Varadi-Papp syndrome (Joubert syndrome with oral-facial-digital features [tongue hamartomas, oral frenulae, and polydactyly with a Y-shaped metacarpal])
• Joubert syndrome with additional specific organ involvement (e.g., Joubert syndrome with retinal disease, Joubert syndrome with renal disease, Joubert syndrome with hepatic disease) or without less commonly observed features (i.e., classic [or pure] Joubert syndrome) [Brancati et al 2010]

In recognition of the extreme clinical heterogeneity of manifestations in individuals with MTS and the variable age of onset of many of these features, the term "Joubert syndrome" is now used to refer to all forms of Joubert syndrome listed above.

Genomic/Genetic Testing

The genetic basis of JS is established in a proband with suggestive MRI and clinical findings and, most commonly, biallelic pathogenic (or likely pathogenic) variants in one of the genes associated with Joubert syndrome (see Table 1). Note: OFD1-related JS is inherited in an X-linked manner, and SUFU-related JS may be inherited in either an autosomal recessive or autosomal dominant manner.

Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) The identification of variant(s) of uncertain significance cannot be used to confirm or rule out the diagnosis.

Molecular genetic testing approaches can include comprehensive genomic testing (exome sequencing, genome sequencing) or gene-targeted testing (multigene panel). Comprehensive genomic testing does not require that the clinician determine which gene(s) are likely involved, whereas use of a multigene panel does.

Note: (1) Single-gene testing for the diagnosis of Joubert syndrome is rarely useful and typically NOT recommended. (2) Given the large number of causative genes and the broad phenotypic spectrum of Joubert syndrome, use of a multigene panel may also be too restrictive.

• Comprehensive genomic testing. Exome sequencing is most commonly used; genome sequencing is also possible.
  For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
• A multigene panel that includes some or all the genes listed in Table 1 may be able to identify the genetic cause of Joubert syndrome while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
  For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with JS, the evaluations summarized in Table 2 (if not performed as part of the evaluation that led to diagnosis) are recommended.

Treatment of Manifestations

Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 3).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in Table 4 are recommended. Note: Individuals with a molecular diagnosis that increases their risk for retinal dystrophy, kidney disease, and/or hepatic disease may require more frequent monitoring to identify manifestations as soon as possible to help ensure prompt care.

Mode of Inheritance

Joubert syndrome (JS) is predominantly inherited in an autosomal recessive manner.

OFD1-related JS is inherited in an X-linked manner. For discussion of X-linked inheritance, see Oral-Facial-Digital Syndrome Type I; X-linked inheritance is not discussed further in this section.

SUFU-related JS is inherited in an autosomal recessive or autosomal dominant manner; autosomal dominant inheritance is not discussed further in this section [Serpieri et al 2022].

Note: Oligogenic inheritance has also been proposed; however, more recent data have not supported oligogenic inheritance in JS [Phelps et al 2018].

Risk to Family Members (Autosomal Recessive Inheritance)

Parents of a proband

• The parents of an affected child are presumed to be heterozygous for an autosomal recessive JS-related pathogenic variant.
• If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for a pathogenic variant and to allow reliable recurrence risk assessment.
• If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

• If both parents are known to be heterozygous for an autosomal recessive JS-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
• Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband. The offspring of an individual with autosomal recessive JS are obligate heterozygotes (carriers) for a pathogenic variant in a JS-related gene.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of a pathogenic variant in a JS-related gene.

Carrier detection. Carrier testing for at-risk relatives requires prior identification of the JS-related pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking. Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see Huang et al [2022].

Prenatal Testing and Preimplantation Genetic Testing

High-risk pregnancy (prior child with JS)

• Once the JS-related pathogenic variant(s) have been identified in an affected family member, molecular genetic prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for JS are possible.
• If the JS-related pathogenic variant(s) in the family are unknown, ultrasound examination with fetal MRI may be helpful in identifying JS-related findings in an affected fetus. The finding of vermis hypoplasia on ultrasound or MRI in a fetus with an older sib with JS is considered diagnostic [Bachmann-Gagescu et al 2020]. However, the absence of detected abnormalities on ultrasound examination and fetal MRI does not rule out the possibility that a fetus is affected with JS [Doherty et al 2005, Quarello et al 2014, Yen 2024].

Low-risk pregnancy (no known family history of JS)

• When detection of cerebellar vermis hypoplasia by routine prenatal ultrasound examination raises the possibility of JS, fetal MRI may detect the typical molar tooth sign (MTS); however, the sensitivity and specificity of this prenatal finding remain unknown [Doherty et al 2005, Quarello et al 2014, Bachmann-Gagescu et al 2020, Yen 2024]. Cerebellar vermis hypoplasia in addition to other distinctive JS/ciliopathy features such as polydactyly or enlarged, cystic, or echogenic kidneys may further indicate JS [Bachmann-Gagescu et al 2020].
• Note: Other disorders with posterior fossa anomalies such as Dandy-Walker malformation, Poretti-Boltshauser syndrome (OMIM 615960), and other conditions associated with cerebellar vermis hypoplasia should be considered in the prenatal differential diagnosis of JS [Bachmann-Gagescu et al 2020].

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Author Notes

University of Washington Hindbrain Malformation Research Program

The following groups are actively involved in clinical research regarding individuals with Joubert syndrome (JS). They would be happy to communicate with persons who have any questions regarding diagnosis of JS and/or would like to enroll in a research study.

• University of Washington Hindbrain Malformation Research Program, USA
  Principal Investigator: Dr Dan Doherty
  Contact: ude.wu@trebuoj, 1-206-616-3788, https://depts.washington.edu/joubert/
• North East Genomics Clinic
  The Newcastle Upon Tyne NHS Foundation Trust, UK
  Principal Investigator: Dr John Sayer
  Contact: ten.shn@1reyas.nhoj

The following groups are interested in hearing from clinicians treating families affected by JS in whom no causative variant has been identified through molecular genetic testing of the genes known to be involved in this group of disorders.

• University of Washington Hindbrain Malformation Research Program, USA
  Principal Investigator: Dr Dan Doherty
  Contact: ude.wu@trebuoj, 1-206-616-3788, https://depts.washington.edu/joubert/
• University of Pavia and IRCCS Mondino Foundation, Italy
  Principal Investigator: Dr Enza Maria Valente
  Contact: ti.vpinu@etnelav.airamazne
• North East Genomics Clinic
  The Newcastle Upon Tyne NHS Foundation Trust, UK
  Principal Investigator: Dr John Sayer
  Contact: ten.shn@1reyas.nhoj

Contact the following groups to inquire about review of variants of uncertain significance in genes associated with JS.

• University of Washington Hindbrain Malformation Research Program, USA
  Principal Investigator: Dr Dan Doherty
  Contact: ude.wu@trebuoj, 1-206-616-3788, https://depts.washington.edu/joubert/
• University of Pavia and IRCCS Mondino Foundation, Italy
  Principal Investigator: Dr Enza Maria Valente
  Contact: ti.vpinu@etnelav.airamazne
• North East Genomics Clinic
  The Newcastle Upon Tyne NHS Foundation Trust, UK
  Principal Investigator: Dr John Sayer
  Contact: ten.shn@1reyas.nhoj

Acknowledgments

Joubert Syndrome and Related Disorders Foundation

Ruxandra Bachmann-Gagescu, University of Zurich, Switzerland

Revision History

• 12 February 2026 (ig) Revision: CEP83 added to Table 1
• 13 March 2025 (bp) Comprehensive update posted live
• 29 June 2017 (bp) Comprehensive update posted live
• 29 March 2012 (me) Comprehensive update posted live
• 24 February 2006 (me) Comprehensive update posted live
• 9 July 2003 (me) Review posted live
• 27 January 2003 (mp) Original submission

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