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What is Joubert Syndrome?
Joubert Syndrome is a very rare genetic disorder in
which there are congenital problems which fit into a
recognizable pattern of features.
What are the characteristics of Joubert Syndrome?
The most typical features of Joubert Syndrome include:
Absence or underdevelopment of part of the brain called
the cerebellum vermis which controls balance and
coordination.
A malformed brain stem, which may cause an abnormal
breathing pattern called episodic hypernea, in which
babies pant, and may be followed by apnea (cessation of
breathing).
Abnormal eye and tongue movements.
Decreased muscle tone. It can be marked in the neonatal
period and in infancy.
Seizures (less typical).
How is Joubert Syndrome diagnosed with an MRI?
Please see the "Molar Tooth" MRI scan on the Diagnostic
section.
How is Joubert Syndrome inherited?
Joubert Syndrome is inherited in an autosomal recessive
manner. Both parents are carriers of the gene. Genetic
testing is not currently available to detect this
condition. Parents who have a child with Joubert
Syndrome have a 1 in 4 chance of having another affected
child in another pregnancy. Prenatal testing with a
level 3 ultrasound may be possible.
What is the prognosis for Joubert Syndrome?
While global developmental delay is frequent, health and
growth are usually not severely affected. Commonly there
is a degree of mild or moderate retardation. Severe
mental retardation is uncommon. There are a few cases of
affected individuals with normal intelligence or
learning abilities.
What is the treatment for Joubert Syndrome?
Infant stimulation, physical therapy, occupational
therapy, and speech therapy are valuable. Somewhat less
traditional therapies such as auditory training, sensory
integration, horseback therapy and water therapy have
also been found to be very beneficial. Infants with
abnormal breathing should have apnea monitoring.
Click here
to access the Joubert Syndrome Fact Sheet |
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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. |