Genetic Syndromes & Genetics
Joubert syndrome
Joubert syndrome is a genetic condition affecting the brainstem and cerebellum that can include an encephalocele.
In short: Joubert syndrome
- It involves a characteristic brain finding (the "molar tooth sign").
- It can include an encephalocele.
- It affects the brainstem and cerebellum.
- Genetic counseling helps families understand it.
What it is
It is a genetic condition affecting the brainstem and cerebellum, identified on imaging by a characteristic appearance called the "molar tooth sign." It can include an encephalocele among its features.
Understanding Joubert syndrome
It involves the back of the brain (brainstem and cerebellum) and can affect movement, breathing patterns, eye movements, and development. Because it is genetic and can occur with an encephalocele, genetic evaluation and counseling help families understand the diagnosis and recurrence risk. It belongs to a group of conditions affecting cell structures called cilia, and is identified through imaging and genetic testing.
Why it matters
Understanding Joubert syndrome helps families see why imaging of the back of the brain is examined for characteristic findings and why a posterior encephalocele with such findings prompts genetic evaluation.
Common questions
What does Joubert syndrome affect?
The brainstem and cerebellum.
What is the characteristic finding?
The "molar tooth sign" on imaging.
Can it include an encephalocele?
Yes, it can.
Bottom line
Joubert syndrome affects the brainstem and cerebellum, shows a "molar tooth sign," and can include an encephalocele.
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