ABOUT JOUBERT SYNDROME
🧠 What is Joubert Syndrome?
Joubert syndrome (JS) is a rare genetic disorder that affects brain development—particularly the cerebellar vermis, which controls balance and coordination.
It is named after the French physician Marie Joubert, who first described it in 1969. A key feature of JS is a unique brain malformation known as the "molar tooth sign" on MRI scans because it resembles a tooth. This feature helps doctors confirm the diagnosis.
Molar tooth sign (MTS) in Joubert syndrome (JS)
A. Axial MRI image through the cerebellum and brain stem of a control showing intact cerebellar vermis (outlined by white arrows)
B. Axial MRI image through the cerebellum and brain stem of a child with JS. Arrows indicate the three key components of the MTS.
Source: https://www.ncbi.nlm.nih.gov/books/NBK1325/figure/joubert.F1/
👶 Main Symptoms
Joubert syndrome can vary greatly from child to child. However, the most common symptoms include:
Weak muscle tone (flaccidity) in babies
-
Breathing irregularities – rapid or interrupted breathing in newborns
-
Unusual eye movements or difficulty tracking objects Delayed development of movement and speech
-
Balance and coordination problems (ataxia)
-
Difficulty with tongue and mouth movements
-
Mild to moderate intellectual disability (in some, but not all, cases)
In some children, JS may also present with the following symptoms:
-
Eye problems, e.g., retinal damage or colobomas
-
Cysts or other problems (nephrophobia)
-
Liver Fibrotic changes (scarring)
-
Finger or toe problems Extra fingers (polydactyly)
🧬 What causes Joubert Syndrome?
JS is usually caused by a genetic mutation inherited from both parents (autosomal recessive inheritance). The affected genes are involved in tiny structures in our cells called cilia, which are important for early brain development.
To date, over 35 different genes have been linked to JS. In some families, a specific genetic alteration has been identified; in others, it remains unknown.
Source: Kindernetzwerk e.V., UKBB Basel, Orphanet Journal of Rare Diseases
🧪 How is Joubert Syndrome diagnosed?
Diagnosis is based on:
-
An MRI scan of the brain showing the molar symptom
-
Clinical symptoms such as breathing problems and developmental delays
-
Genetic testing to confirm the exact mutation
Doctors can also check vision, hearing, kidney and liver function, and closely monitor developmental progress.
🩺 Is Joubert-Syndrome treatable?
There is currently no cure for Joubert syndrome. However, many children benefit greatly from early intervention and therapies, including:
-
Physical therapy – to improve strength and balance
-
Occupational therapy – to promote coordination and daily living skills
-
Speech therapy – to promote communication
-
Special education and early intervention
-
Antiepileptic medications for epilepsy
With the right support, many children with Joubert syndrome can learn, grow, and thrive in their own unique way.
❤️ Living with Joubert Syndrome
Every child with JS is different. Some have only mild problems, others require lifelong support. Families often describe their children as cheerful, curious, and full of personality.
Because JS is rare, connecting with other families through support groups or online communities can be very helpful.
Andy's story is one of hope, resilience, and joy. With this website, we aim not only to support Andy, but to raise awareness, support research, and create a better future for all children with JS.
📎 Additional Informationen and Ressources
-
Kindernetzwerk e.V. (Germany): https://www.kindernetzwerk.de
-
UKBB Basel: https://www.ukbb.ch
-
Orphanet Journal of Rare Diseases (JS overview): https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-35
-
Video about Joubert Syndrome: https://www.youtube.com/watch?v=NfVK5HBULI8