Knowra Joubert syndrome Joubert syndrome Joubert syndrome is a rare inherited neurodevelopmental disorder involving underdevelopment of the cerebellar vermis and a characteristic brainstem malformation called the molar tooth sign. It can also affect breathing, eye movements, coordination, and other organs.
Molar tooth sign : A characteristic brain MRI pattern formed by abnormalities of the cerebellar peduncles, interpeduncular fossa, and cerebellar vermis. This defining imaging pattern reflects the hindbrain malformation associated with Joubert syndrome.
Magnetic resonance imaging : A medical imaging method that uses magnetic fields and radio waves to create detailed images of the body. MRI reveals the molar tooth sign used to support diagnosis.
Cerebellum : A brain structure involved in coordinating movement, balance, and aspects of cognition. The vermis and its connections are parts of this structure.
Ciliogenesis : The cellular process of forming and maintaining cilia. Genes implicated in Joubert syndrome often participate in cilium formation or function.
Meckel syndrome : A severe inherited ciliopathy often involving brain malformations, cystic kidneys, and extra fingers or toes. It shares genetic and ciliary links with Joubert syndrome but usually has more severe congenital anomalies.
Primary cilium : A solitary, nonmotile, microtubule-based projection on many vertebrate cells that senses signals and coordinates cellular processes. Many Joubert syndrome proteins function at primary cilia, linking the disorder to ciliary signaling.
Genetic testing : Analysis of DNA to identify variants associated with inherited conditions or traits. Testing can identify a causative gene and clarify inheritance within a family.
Brainstem : The brain region connecting the cerebrum with the spinal cord and regulating essential functions such as breathing. The molar tooth sign includes brainstem abnormalities that help distinguish the syndrome.
CEP290 : A gene encoding a centrosomal protein involved in ciliary function and intracellular transport. Variants in CEP290 are among the genetic causes of Joubert syndrome.
Bardet–Biedl syndrome : An inherited ciliopathy commonly associated with retinal degeneration, obesity, extra fingers or toes, and kidney abnormalities. Both are ciliopathies, but Bardet–Biedl syndrome has a different characteristic clinical pattern.
Show all 27