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What is Joubert Syndrome? Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped)
of the part of the brain called the cerebellar vermis and a malformed brain stem.
The most common features of the
disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur.
We are celebrating our 16th year of
providing information about the disorder to families all
over the world!
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The Joubert Syndrome Foundation
& Related Cerebellar Disorders is an international
network of parents
who share knowledge, experience, and emotional support.
The foundation offers a networking list,
newsletter, and a
biennial conference.
The Joubert Syndrome Foundation & Related Cerebellar
Disorders plays an important role in educating
physicians and their support teams as well as increasing
public awareness. The Joubert Syndrome Foundation &
Related Cerebellar Disorders is a nonprofit
organization.
This website is funded entirely by private contributions
made by members and friends of the foundation. |
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The views expressed do
not necessarily reflect those of the donors. The articles,
announcements, and resources included on this website are
for information only and should not be considered as medical
advice. Please always consult your physician for medical
advice. The Joubert Syndrome Foundation & Related Cerebellar
Disorders does not endorse any product, service, or theory
referred to on the website.
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