Joubert Syndrome: Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is ... more about Joubert Syndrome.
Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance. More detailed information about the symptoms, causes, and treatments of Joubert Syndrome is available below.
See full list of 29 symptoms of Joubert Syndrome
See full list of 6 treatments for Joubert Syndrome
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Prognosis for Joubert Syndrome: Variable. Disability ranges from mild problems to moderate mental retardation.
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Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. (Source: excerpt from NINDS Joubert Syndrome Information Page: NINDS)
Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated. - (Source - Diseases Database)
Joubert Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Joubert Syndrome, or a subtype of Joubert Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Joubert Syndrome as a "rare disease".
Source - Orphanet
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