Joubert Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Joubert Syndrome?
A pediatric neurologist (a children's brain and nerve doctor) and a clinical geneticist (a doctor who treats inherited conditions) often lead care for Joubert syndrome. Other specialists, such as kidney doctors and eye doctors, may join the care team. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Joubert syndrome?
Joubert syndrome is a rare brain condition. It affects the back of the brain, which helps control balance and coordination. It can also affect many other parts of the body.
Doctors see a sign on an MRI scan (a detailed picture of the brain) called the molar tooth sign. The brain changes look like the outline of a back tooth. Signs of Joubert syndrome can differ, even among members of the same family.
Symptoms
Symptoms often start in infancy. Common signs include:
- Weak or floppy muscles (low muscle tone).
- Slow learning of skills such as sitting, walking, or talking.
- Eye movements that are hard to control.
- Poor balance and coordination (ataxia).
- In infants, episodes of unusually fast or slow breathing.
- Intellectual disability, from mild to severe.
- Seizures.
- Kidney disease, liver disease, or hormone problems.
- Extra fingers or toes, or a cleft lip or palate (an opening in the top of the mouth).
- Eye changes that can cause vision loss.
Some people have mild symptoms affecting movement and physical growth. Others have more severe symptoms affecting other parts of the body.
Causes and who gets it
Joubert syndrome can be caused by changes in one of more than 40 genes. Most of these genes are known or suspected to be involved with primary cilia, which are tiny finger-like parts on the surface of cells. In some people, the genetic cause is unknown.
It is almost always inherited in an autosomal recessive pattern. This means a child gets a changed gene from each parent. The parents each carry one changed copy. They typically show no signs of the condition. Less often, other patterns of inheritance occur.
How doctors diagnose it
Doctors usually use MRI scans that show the molar tooth sign to diagnose Joubert syndrome. They also look for specific symptoms and body features. Genetic testing can help find the gene changes that cause it.
After diagnosis, doctors run more tests to see which parts of the body are affected. These can include:
- A neurologic exam to look at muscle tone, breathing, and eye movements.
- A sleep study to check breathing during sleep.
- An ultrasound scan of the liver and kidneys, plus blood tests of liver and kidney health.
- A visit with a clinical geneticist to help families understand how the condition is inherited.
Treatment
NINDS, a part of the National Institutes of Health, says there is no cure for Joubert syndrome. Doctors treat the specific symptoms a person has.
Some children do well with play-based activities. These help babies build movement and communication skills. Delays in development are usually treated with therapy. This includes physical, occupational, and speech therapy.
Children should see specialists, such as kidney doctors (nephrologists), eye doctors (ophthalmologists), geneticists, and neurologists. Yearly screening is recommended for liver, kidney, and eye problems.
Doctors may consider apnea monitoring, which checks for pauses in breathing, for infants and children with abnormal breathing.
When to see a doctor
Have a baby checked if they have floppy muscles, are slow to sit, walk, or talk, or have eye movements that are hard to control. Tell the doctor about any unusually fast breathing or pauses in breathing.
Regular checkups matter after a diagnosis. Doctors often track symptoms through checkups and do routine screenings for problems with the eyes, liver, and kidneys.
Call 911 or go to the emergency room if a child has bluish or grey skin, loses consciousness, or has trouble breathing that is worse than usual for that child.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A doctor like this can help arrange referrals to specialists. They can also keep track of routine screenings between specialist visits.
Common questions
Is there a cure for Joubert syndrome?
No. NINDS says there is no cure, so doctors treat the specific symptoms a person has. Therapy and routine checkups for the eyes, liver, and kidneys are part of care.
Is Joubert syndrome inherited?
Yes. It is almost always inherited in an autosomal recessive pattern, which means a person must inherit a changed copy of the gene from each parent. The parents typically do not show signs of the condition.
What is the molar tooth sign?
It is a pattern of brain changes seen on an MRI scan, and it is the hallmark feature of Joubert syndrome. It got its name because the brain changes resemble the outline of a molar tooth.
Can Joubert syndrome affect the kidneys and liver?
Yes. Kidney disease and liver disease may occur in people with Joubert syndrome. For this reason, doctors do routine screenings for problems with the eyes, liver, and kidneys.
Sources
- National Institute of Neurological Disorders and Stroke - Joubert Syndrome
- MedlinePlus Genetics - Joubert syndrome
- National Organization for Rare Disorders - Joubert Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
