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Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.
Features include very common findings: Postaxial polydactyly; and common findings: Occipital encephalocele, Trident pelvis, Molar tooth sign on MRI, and Intrahepatic biliary atresia and others. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 3 | Kyphoscoliosis, Joint hypermobility, Bowing of the long bones |
TCTN3 function has not been fully characterized.
Joubert syndrome 18 is associated with mutations in the TCTN3 gene on chromosome 10.
Genetic testing for TCTN3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 18 has been reported in the published literature.
Phenotype severity distribution: 1 very common feature, 6 common features.
No clinical trials have been registered for Joubert syndrome 18.
13 publications have been identified in PubMed for Joubert syndrome 18. Research spans Case Report / Case Series (58%), Review / Meta-Analysis (17%), and Diagnostic / Biomarker (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 58% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 18
Kidneys and urinary system |
2 |
Horseshoe kidney, Renal cyst |
Heart and blood vessels | 1 | Ventricular septal defect |
Brain and nerves | 1 | Intellectual disability |
Digestive system | 1 | Intrahepatic biliary atresia |
Head and neck | 1 | Cleft palate |
Eyes | 1 | Abnormal eye movements (abnormality of eye movement) |
Growth and development | 1 | Intrauterine growth retardation |
2 |
17% |
Testing and diagnosis research | 1 | 8% |
Disease patterns and progression | 1 | 8% |
New treatment approaches | 1 | 8% |
Ito M (2026). [PMID: 41809274](https://pubmed.ncbi.nlm.nih.gov/41809274/). *Cureus*. [Case Report / Case Series]
Mański Ł (2026). [PMID: 42073090](https://pubmed.ncbi.nlm.nih.gov/42073090/). *Children (Basel)*. [Review / Meta-Analysis]
Ju-Wang JD (2025). [PMID: 39817683](https://pubmed.ncbi.nlm.nih.gov/39817683/). *Therapeutic advances in respiratory disease*. [Review / Meta-Analysis]
Chen L (2025). [PMID: 39925483](https://pubmed.ncbi.nlm.nih.gov/39925483/). *Pharmacogenomics and personalized medicine*. [Case Report / Case Series]
Lo Giudice M (2025). [PMID: 40565597](https://pubmed.ncbi.nlm.nih.gov/40565597/). *Genes*. [Epidemiology / Natural History]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Jones N (2025). [PMID: 41064626](https://pubmed.ncbi.nlm.nih.gov/41064626/). *Case reports in nephrology and dialysis*. [Case Report / Case Series]
Taudien JE (2025). [PMID: 40951761](https://pubmed.ncbi.nlm.nih.gov/40951761/). *Molecular therapy. Nucleic acids*. [Gene Therapy / Novel Therapeutics]
Ferrão T (2025). [PMID: 41116943](https://pubmed.ncbi.nlm.nih.gov/41116943/). *Cureus*. [Case Report / Case Series]
Kumasaka I (2025). [PMID: 41130729](https://pubmed.ncbi.nlm.nih.gov/41130729/). *BMJ case reports*. [Case Report / Case Series]