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joubertsyndrome · Joubert Syndrome & Related Cerebellar D

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Description

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.

We welcome and encourage open discussion on the Joubert Syndrome & Related Disorders Foundation (JSRDF) social media sites. That said, please remember that information posted on any social media platform shouldn’t be considered medical advice and shouldn’t replace a consultation with a healthcare professional. Each child with JSRD is unique with different medical needs. Always consult your health care provider for professional medical advice. Also, please be aware that once you post something online, there’s the potential for thousands of people to read your words, even years from now. As a result, we suggest you exercise caution when posting medical information on any social medial site and you do not disclose personal identifiable information. The JSRDF does not endorse any product, service, medical provider, advice, theory or any other information discussed or referred to on this site. To learn more about Joubert syndrome and related disorders, visit the JSRDF website at www.jsrdf.org.

Here, families can find up-to-date information on Joubert syndrome and Foundation events, become a member of 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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