Short answer · Medically reviewed summary · Last updated: 2026-05-08
Joubert Syndrome is not contagious and cannot be spread through physical contact, air, or any other environmental means. It is a rare genetic disorder caused by mutations in specific genes involved in the development of the primary cilia, meaning it is biologically impossible to "catch" or transmit this condition to others. What is the actual cause of Joubert Syndrome? Joubert Syndrome is a genetic condition caused by mutations in any of at least 35 different genes (such as AHI1, CEP290, and TMEM67).
1 people with Joubert Syndrome have shared their first-person experience on this question at DiseaseMaps.
Is Joubert Syndrome contagious?
Is Joubert Syndrome contagious? Clear, medically reviewed answer on transmission, with sources.
Joubert Syndrome is not contagious and cannot be spread through physical contact, air, or any other environmental means. It is a rare genetic disorder caused by mutations in specific genes involved in the development of the primary cilia, meaning it is biologically impossible to "catch" or transmit this condition to others.
What is the actual cause of Joubert Syndrome?
Joubert Syndrome is a genetic condition caused by mutations in any of at least 35 different genes (such as AHI1, CEP290, and TMEM67). These genes are responsible for the structure and function of cilia, which are microscopic, hair-like structures found on the surface of cells throughout the body. Because it is strictly genetic, Joubert Syndrome is present from conception and is not influenced by infections, viruses, or external lifestyle factors.
Why is there sometimes confusion regarding contagion?
Rare conditions like Joubert Syndrome are often misunderstood by the public due to a lack of awareness. Because some individuals with Joubert Syndrome may experience breathing irregularities or developmental delays, those unfamiliar with the disorder may mistakenly assume these symptoms are caused by an infectious disease. However, there is no risk in living with, touching, or caring for someone with Joubert Syndrome.
What are the primary characteristics of the condition?
The clinical presentation of Joubert Syndrome is primarily defined by the "molar tooth sign" seen on brain MRI scans, which indicates a malformation of the cerebellar vermis and brainstem. Key features typically include:
- Hypotonia (decreased muscle tone) in infancy.
- Ataxia (difficulties with coordination and balance).
- Abnormal eye movements, such as oculomotor apraxia.
- Neonatal breathing abnormalities, including episodic hyperpnea or apnea.
- Developmental delays of varying degrees.
Next steps
- Consult with a clinical geneticist to discuss inheritance patterns and family planning.
- Connect with the 82 members currently sharing experiences on DiseaseMaps.org to find community support.
- Reach out to the Joubert Syndrome and Related Disorders Foundation (JSRDF) for specialized resources.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Joubert Syndrome.
- Orphanet: Joubert syndrome (ORPHA:473).
- OMIM (Online Mendelian Inheritance in Man): Joubert Syndrome entry #213300.
- Joubert Syndrome and Related Disorders Foundation (JSRDF).
Posted Aug 3, 2017 by Evelin 2000
