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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 agenesis (absence) or hypoplasia (underdeveloped) part of the brain called the cerebellar vermis and a malformed brain stem. The most common features 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. Come join other parents that have children with this diagnosis.
The Joubert Syndrome Yahoo! group serves as a forum for sharing personal stories, therapy experience, behavioral and social issues. Users also pose questions to other users regarding issues that may arise as children with Joubert Syndrome & Related Cerebellar Disorders grow and learn.
The information shared in this group is NOT medical advice and should not be interpreted as medical advice. Please always consult your physician for medical advice. Further, the Joubert Syndrome Foundation & Related Cerebellar Disorders does not endorse any product, service, medical provider, advice, theory or any other information discussed or referred to on this group.
An additional resource for families, physicians, and friends to learn more about Joubert syndrome and related cerebellar disorders is the Joubert Syndrome Foundation & Related Cerebellar Disorders website at http://www.jsfrcd.org. There, families can find up-to-date information on Joubert syndrome and Foundation events, become a member of the JSF&RCD Foundation, and request a family information packet filled with useful information and articles about this rare disorder.
Children/Adults with related cerebellar disorders are also welcome to this group.
NO SPAM OR ANY OTHER ADVERTISEMENTS PLEASE!!
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