Joubert syndrome

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Joubert syndrome Classification and external resources
ICD-10	Q04.3
ICD-9	742.2
DiseasesDB	30688

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Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination.

Presentation

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

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.

Prognosis

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.

Genetics

Multiple genes that are mutated in individuals with Joubert syndrome have been identified:

• Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases. ^[1][1]

• In some rare cases of Joubert syndrome, mutations have been found in NPHP1 which is also associated with nephronophthisis, a cystic kidney disorder. ^[1]

• The gene CEP290 has been associated with both Joubert syndrome and Leber's congenital amaurosis, type 10.^[1]

References

External links

• The Joubert Syndrome Foundation Home Page
• NINDS Joubert Syndrome Information Page
• Researchers Identify Joubert Syndrome Genes

v • d • e WikiDoc Research Resources for Joubert syndrome
Articles on Joubert syndrome	Most recent articles on Joubert syndrome • Most cited articles on Joubert syndrome • Review articles on Joubert syndrome • Articles on Joubert syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Joubert syndrome	Powerpoint slides on Joubert syndrome • Images of Joubert syndrome • Photos of Joubert syndrome • Podcasts & MP3s on Joubert syndrome • Videos on Joubert syndrome
Evidence Based Medicine Regarding Joubert syndrome	Cochrane Collaboration on Joubert syndrome • Bandolier on Joubert syndrome • TRIP on Joubert syndrome
Cost Effectiveness of Joubert syndrome	Cost Effectiveness of Joubert syndrome
Clinical Trials Involving Joubert syndrome	Ongoing Trials on Joubert syndrome at Clinical Trials.gov • Trial results on Joubert syndrome • Clinical Trials on Joubert syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Joubert syndrome	US National Guidelines Clearinghouse on Joubert syndrome • NICE Guidance on Joubert syndrome • NHS PRODIGY Guidance • FDA on Joubert syndrome • CDC on Joubert syndrome
Textbook Information on Joubert syndrome	Books and Textbook Information on Joubert syndrome
Pharmacology Resources on Joubert syndrome	Dosing of Joubert syndrome • Drug interactions with Joubert syndrome • Side effects of Joubert syndrome • Allergic reactions to Joubert syndrome • Overdose information on Joubert syndrome • Carcinogenicity information on Joubert syndrome • Joubert syndrome in pregnancy • Pharmacokinetics of Joubert syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Joubert syndrome	Genetics of Joubert syndrome • Pharmacogenomics of Joubert syndrome • Proteomics of Joubert syndrome
Newstories on Joubert syndrome	Joubert syndrome in the news • Be alerted to news on Joubert syndrome • News trends on Joubert syndrome
Commentary on Joubert syndrome	Blogs on Joubert syndrome
Patient Resources on Joubert syndrome	Patient resources on Joubert syndrome • Discussion groups on Joubert syndrome • Patient Handouts on Joubert syndrome • Directions to Hospitals Treating Joubert syndrome • Risk calculators and risk factors for Joubert syndrome
Healthcare Provider Resources on Joubert syndrome	Symptoms of Joubert syndrome • Causes & Risk Factors for Joubert syndrome • Diagnostic studies for Joubert syndrome • Treatment of Joubert syndrome
Continuing Medical Education (CME) Programs on Joubert syndrome	CME Programs on Joubert syndrome
International Resources on Joubert syndrome	Joubert syndrome en Espanol • Joubert syndrome en Francais
Business Resources on Joubert syndrome	Joubert syndrome in the Marketplace • Patents on Joubert syndrome
Informatics Resources on Joubert syndrome	List of terms related to Joubert syndrome

de:Joubert-Syndrom fr:Syndrome de Joubert hu:Joubert-szindróma

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