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Apr 15, 2024 · Joubert syndrome is a rare disorder that happens when genetic mutations affect how a fetus’s brain develops. Most people inherit the mutations, but they can also happen for no known reason. Symptoms vary, but typically include issues with muscle control or muscle tone, breathing and eye movement. Treatments vary and depend on symptoms.
Nov 28, 2023 · Joubert syndrome is a rare genetic condition characterized by abnormal brain development that includes the absence or underdevelopment of the cerebellar vermis (an area of the brain that controls balance and coordination) and a malformed brain stem.
Jun 14, 2021 · Joubert syndrome was originally described by pediatric neurologist, Dr. Marie Joubert, and her colleagues in 1969 in four siblings with underdeveloped cerebellar vermis who had symptoms of hypernea (forced respiration), abnormal eye movements, ataxia and intellectual disability.
It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). Together, these cause the characteristic appearance of a molar tooth sign on MRI.
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. [4] .
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging ...
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Dec 20, 2023 · Joubert syndrome is a rare genetic condition that causes underdevelopment in a part of the brain called the cerebellar vermis and malformation of the brainstem. The cerebellar vermis...
