How rare is Joubert syndrome?

Joubert syndrome is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Joubert syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Joubert syndrome?

Information about treatment is currently limited for this condition.

Where can I find support for Joubert syndrome?

Patient advocacy organizations for Joubert syndrome include Joubert Syndrome and Related Disorders Foundation. These organizations can provide information, connect you with other families, and help navigate care. Visit the Support section of this page for full details and contact information.

What are the complications that can arise from Joubert syndrome?

Joubert syndrome can lead to several complications due to its effects on brain development. These may include ongoing issues with balance and coordination, which can affect daily activities. Additionally, some individuals may experience respiratory problems related to abnormal breathing patterns. Regular monitoring by healthcare providers is important to manage these complications.

How does Joubert syndrome affect daily life and activities?

Living with Joubert syndrome can present challenges in daily life, especially due to low muscle tone and coordination issues. Children may take longer to reach motor milestones, which can affect their ability to participate in activities with peers. Supportive therapies, like physical therapy, can help improve balance and coordination, making daily activities easier.

What is the life expectancy for someone with Joubert syndrome?

Information about life expectancy for individuals with Joubert syndrome is currently limited. However, many people with this condition can lead fulfilling lives with appropriate care and support. Regular check-ups and management of symptoms can help improve quality of life and overall health.

Are there specific specialists I should consult for Joubert syndrome?

For Joubert syndrome, it is important to consult specialists who understand brain development and related issues. Pediatric neurologists and developmental specialists can provide valuable insights and care. Additionally, physical and occupational therapists can help with motor skills and coordination, which are often affected by this condition.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Joubert syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Joubert syndrome

MONDO:0018772

Also known as:CPD IVJBTSJoubert syndrome type A

Find Clinical TrialsTrials

Overview

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

OnsetCONGENITAL, JUVENILE, ANTENATAL

Clinical Trials1 registered · 1 recruiting

Patient Orgs1 organizations · Joubert Syndrome and Related Disorders Foundation

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth, adolescence, before birth.

GeneReviews

Clinical Guidance

The diagnosis of oral-facial-digital syndrome type I (OFD1) is suspected at birth in some infants on the basis of characteristic oral, facial, and digital anomalies; in other instances, the diagnosis is suspected only after polycystic kidney disease is identified in later childhood or adulthood. Almost all affected individuals with OFD1 are female; however, a few affected males have been reported. Most affected males are described as malformed fetuses delivered by a female with OFD1. To date, 234 individuals have been identified with a pathogenic variant in OFD1 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Oral-Facial-Digital Syndrome Type I: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for oral-facial-digital syndrome type I (OFD1) have been published.

Suggestive Findings

OFD1 should be suspected in females with typical oral, facial, and digital findings, polycystic kidney disease, and/or milia. The oral, facial, and digital findings are also found in other oral-facial-digital syndromes. OFD1 is characterized by renal cystic disease in approximately 50% of individuals and by the X-linked inheritance pattern in families with more than one affected individual. Almost all individuals with OFD1 are female; however, a few affected males have been reported. Most affected males are described as malformed fetuses delivered by an affected female.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Joubert syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for oral-facial-digital syndrome type I (OFD1) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with OFD1, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Oral-Facial-Digital Syndrome Type I: Recommended Evaluations

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Oral-Facial-Digital Syndrome Type I: Recommended Surveillance

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

138 publications have been identified in PubMed for Joubert syndrome. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	61	44%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Joubert Syndrome and Related Disorders Foundation

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

Are you a patient organization not listed here? Claim this page to be listed and embed this content on your site — free.

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:475

GARD

Genetic and Rare Diseases Info Center

GARD:6802

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Joubert Syndrome and Related Disorders Foundation and other patient organizations for support?

FAQ

Frequently Asked Questions

Common questions about Joubert syndrome

Joubert syndrome is a rare condition that affects brain development. It involves a congenital malformation of the brainstem and issues with the cerebellum. People with this condition may show signs of abnormal breathing patterns in infancy and distinctive eye movements. This disorder is also marked by low muscle tone (hypotonia) and trouble with balance and coordination (ataxia). There is often a delay in reaching motor milestones, which may be linked to the brain abnormalities described.

Common symptoms of Joubert syndrome include an abnormal respiratory pattern, involuntary eye movements (nystagmus), low muscle tone (hypotonia), problems with balance and coordination (ataxia), and delays in achieving motor milestones.

Joubert syndrome is caused by congenital malformations, meaning the changes in brain development are present at birth. These include issues with the brainstem and the part of the brain called the cerebellar vermis. Information on genetic causes such as specific genes is currently limited for this condition. Associated genes include KIAA0753, ARL3, TCTN3, CPLANE1, TMEM67.

← Back to All Diseases

Feature	% of Persons w/Feature	Comment
Oral manifestations	97%-100%	Dental tongue abnormalities, aberrant oral frenulae, bifid uvula
Facial features	60%-80%	Dysmorphisms, frontal bossing, cleft lip/ pseudocleft of upper lip
Digit anomalies	50%-60%	Syndactyly, clinodactyly, polydactyly, brachydactyly
Brain malformations	65%	Hydrocephalus, porencephaly, corpus callosum abnormalities, cortical dysgenesis
Polycystic kidney disease	50%	—
Intellectual disability	~50%	Mild to severe
Milia	10%	Oral manifestations. The tongue is lobulated. Tongue nodules, which are usually hamartomas or lipomas, also occur in at least one third of individuals with OFD1. Ankyloglossia attributable to a short lingual frenulum is common.

GeneReviews

Differential Diagnosis

The differential diagnosis of oral-facial-digital syndrome type I (OFD1) includes other oral-facial-digital syndromes and cystic renal diseases. Table 4. Genes of Interest in the Differential Diagnosis of Oral-Facial-Digital Syndrome Type I

Gene(s)	Disorder	MOI	Distinctive Features/ Comment
C2CD3	C2CD3-related OFD(OMIM 615948)/JS-OFD	AR	Severe microcephaly ID. Brain MRI shows vermis hypoplasia MTS.
CEP164	CEP164-related OFD1	AR	Postaxial polydactyly, hypotonia, cerebral malformations, hydronephrosis, urogenital abnormalities. (CEP164 is also assoc w/nephronophthisis.)
CLUAP1	CLUAP1-relatedJS-OFD2	AR	Epiglottis cleft, short limbs, ID. Brain MRI shows MTS. One individual reported to date.
CPLANE1(C5orf42)	CPLANE1-related OFD (OMIM 277170)/ JS-OFD	AR	Polydactyly (particularly central) cerebellar malformations. Renal agenesis dysplasia have been described. Brain MRI may show MTS.3
DDX59	DDX59-related OFD (OMIM 174300)	AR	Polydactyly median cleft lip only. Hyperplastic frenula reported in 1 person.
FAM149B1	FAM149B1-related JS (OMIM 618763)	AR	Macrocephaly. Brain MRI shows MTS. Reported in 1 family to date.
IFT57	IFT57-related OFD (OMIM 617927)	AR	Short stature, skeletal dysplasia, brachymesophalangia
INTU	INTU-related OFD (OMIM 617926)	AR	Cardiac defects, deafness, polydactyly. (Also assoc w/INTU-related SRPS [OMIM 617925].)
KIAA0753(OFIP)	KIAA0753-related OFD (OMIM 617127)	AR	Polydactyly (particularly postaxial). Brain MRI shows vermis hypoplasia MTS. (Also assoc w/KIAA0753-related short-rib thoracic dysplasia [OMIM 619479] JS [OMIM 619476].)
NEK1	NEK1-related OFD2 (Mohr syndrome)4	AR	Dental agenesis, maxillary hypoplasia, conductive hearing loss, bilateral tortuosity of retinal veins. (Also assoc w/NEK1-related SRPS [OMIM 263520].)
SCLT1	SCLT1-related OFD4	AR	Microcephaly, coloboma, choanal atresia, congenital heart disease, agenesis of corpus callosum
SCNM1	SCNM1-related OFD (OMIM 620107)	AR	Postaxial polydactyly, tongue nodules, abnormalities of incisors, cleft palate, retrognathia
TBC1D32	TBC1D32-related OFD4	AR	Microcephaly, coloboma, choanal atresia, agenesis of corpus callosum, congenital heart disease, seizures. 1 person described to date.
TCTN1	TCTN1-related JS	AR	Polydactyly cerebellar malformations
TCTN3	TCTN3-related OFD4(Mohr-Majewski)(OMIM 258860)/JS-OFD	AR	Tibial involvement polydactyly are primary manifestations. Micrognathia. Other findings incl pectus excavatum short stature.
TMEM107	TMEM107-related OFD (OMIM 617563)/ JS-OFD	AR	Postaxial polydactyly. ID. Brain MRI shows vermis hypoplasia MTS.
TMEM138	TMEM138-related OFD4	AR	Brain MRI shows vermis hypoplasia MTS.

Source: GeneReviews — "Oral-Facial-Digital Syndrome Type I"

System/Concern	Evaluation	Comment
ENT	Exam for oral manifestations that may affect feeding speech	—
Dental	Dental eval	—
Digit anomalies	Assess for digit anomalies.	Neurologic
Behavior	Formal, age-appropriate assessment of development behavior	—
Hearing	Audiology eval if cleft palate is present	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of OFD1 to facilitate medical personal decision making Family support resources
Oral-Facial-Digital Syndrome Type I: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other Oral manifestations
Polydactyly	Surgical repair as recommended by orthopedist	—
Seizures	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1
Renal disease	Routine mgmt of renal disease, which may require hemodialysis or peritoneal dialysis renal transplantation	Development/ Behavioral manifestations
Hearing impairment	Hearing aids may be helpful per otolaryngologist.	Community hearing services through early intervention or school district ADHD = attention-deficit/hyperactivity disorder; ASM = anti-seizure medication; IEP = individualized education plan Education of parents/caregivers regarding common seizure presentations is appropriate.
Oral-Facial-Digital Syndrome Type I: Recommended Surveillance System/Concern	Evaluation	Frequency
ENT	Assessment of speech development frequency of ear infections	Annually in children if cleft lip /or cleft palate is present
Dental	Dental eval	Annually or as recommended by dentist in presence of dental abnormalities
Neurologic	Assess for new seizures or changes in seizures.	As recommended by neurologist in those w/brain involvement Renal

Kisho

Joubert syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis.

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Joubert syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Joubert syndrome?

What are the symptoms of Joubert syndrome?

What causes Joubert syndrome?

How rare is Joubert syndrome?

How is Joubert syndrome diagnosed?

Are there treatments for Joubert syndrome?

Where can I find support for Joubert syndrome?

What are the complications that can arise from Joubert syndrome?

How does Joubert syndrome affect daily life and activities?

What is the life expectancy for someone with Joubert syndrome?

Are there specific specialists I should consult for Joubert syndrome?

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis.

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.