Gourt > Health > Conditions and Diseases > Genetic Disorders > 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 absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem(molar tooth sign). 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. There may be mild or moderate retardation.
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.
The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.
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Joubert Syndrome - Information sheet compiled by NINDS.
Meta Description: [ Joubert Syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
Joubert Syndrome Foundation - Organization, conferences and contact details. FAQs about the disease, information center and resources.
Meta Description: [ The Joubert Syndrome Foundation & Related Cerebellar Disorders is an international network of parents who share knowledge, experience, & emotional support. ]
National Library of Medicine: Joubert syndrome - Synonyms, a summary and a list of major features for this disorder.
Readers Digest Health - A brief discussion about joubert syndrome, its alternate names and further resources.
Meta Description: [ RD.com offers articles, interactive tools, games, and multimedia features from the editors of Reader's Digest. As the official web site of Reader's Digest, it offers information of enduring value and interest to help improve, inspire, and enrich the lives of its users. ]
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Ruan Crouse Support Appeal - Read about a young boy suffering from Joubert's Syndrome who lives in South Africa.
The Genetics of Joubert Syndrome and Related Disorders - Information is presented for both physicians and families with affected children, including disease description, treatment options, prognosis, and current research.
TheFetus.net - A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis.
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