The Center for Cerebellar Malformations
What is Joubert Syndrome?
Joubert Syndrome (JS) is a rare
genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of
the brain are underdeveloped or malformed. These areas (notably the cerebellar vermis and brainstem)
include those affecting the centers for balance and coordination. This can lead to impaired attention,
visual, spatial, motor, language and social functional skills. JS is characterized by a host of
features, many of which do not occur in every patient.
Features that can
be associated with JS:
1) Difficulty breathing, including:
a)
Irregular pattern
b)
Panting/labored
breathing
c)
Apnea (breathing
stops momentarily)
2) Difficulty with balance (ataxia)
3) Limpness/lack of muscle tone or hypotonia
4) Eye movement abnormalities
5) Head/skull/brain malformations including
a)
Encephalocele-a
hole in the skull, such that it does not fully cover the brain
b)
Meningocele-a
hole in the membrane around the brain
c)
Hydrocephalus-too
much fluid around the brain (also referred to as water on the brain)
6) Kidney problems including
a) Cysts (including polycystic kidney disease)
b) Nephronopthesis
c) Failure
7) Vision problems including blindness
8) Liver problems
9) Polydactyly (more than five fingers or toes per
limb)
10) Tongue tumors
11) Pituitary abnormality
12) Autistic-like behavior
Click here
more information about other syndromes related to JS