Living with Joubert syndrome 2
A genetic brain development condition with low muscle tone, developmental delay, and unusual eye movements.
Understanding Joubert syndrome 2
Classic Joubert syndrome has three main findings: the molar tooth sign (a pattern in the cerebellum and brain stem seen on MRI), low muscle tone, and developmental delays. Breathing that is too fast or pauses, and unusual eye movements, may also occur. Breathing problems tend to improve with age, trunk balance problems develop over time, and thinking skills range from severe intellectual disability to normal. Other organs can be involved, and features vary even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Developmental delay
- Intellectual disability
- Eyes turning inward (esotropia)
- Shaking eye movements (nystagmus)
- Long, narrow head and prominent forehead
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Joubert Syndrome & Related Disorders Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of a gene from each parent. It does not name the gene.
Also known as: cerebellooculorenal syndrome 2; cors2; jbts2; joubert syndrome caused by mutation in tmem216; joubert syndrome type 2; tmem216 joubert syndrome
Patient organizations
- Joubert Syndrome & Related Disorders FoundationJoubert syndrome 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Joubert syndrome 2.
Explore research for Joubert syndrome 2
Explore actively recruiting Joubert syndrome 2 studies with HealthSpark.
Find actively recruiting studies for Joubert syndrome 2 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Joubert syndrome 2 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Joubert syndrome 2
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Joubert syndrome 2 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.