Joubert syndrome 2

Common Name(s)

Joubert syndrome 2

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices ({4:Maria et al., 1997}). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) ({1:Chance et al., 1999}; {5:Satran et al., 1999}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Joubert syndrome 2" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 28 Oct 2014

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Joubert syndrome 2" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 28 Oct 2014

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Joubert syndrome 2" returned 1 free, full-text research articles on human participants. First 3 results:

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
 

Author(s): Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J Hannon, Alan L Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal: Am. J. Hum. Genet.. 2010 Jan;86(1):93-7.

 

Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Brain MRI results show cerebellar ...

Last Updated: 20 Jan 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Joubert syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.