Joubert Syndrome

Common Name(s)

Joubert Syndrome

Joubert syndrome is a disorder that affects many parts of the body.  The signs and symptoms vary among affected individuals, even among members of the same family.  The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI).  Most infants with Joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  Individuals with Joubert syndrome can have delayed development and mild to severe intellectual disabilities.   Distinctive facial features are also characteristic of Joubert syndrome.  Mutations in one of 10 known genes have been found in about half of all cases with Joubert syndrome and related disorders.  In the remaining cases, the genetic cause is unknown.  This condition typically has an autosomal recessive pattern of inheritance.  Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Joubert Syndrome" 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: 3 Oct 2014

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Joubert Syndrome" 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: 3 Oct 2014

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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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" returned 68 free, full-text research articles on human participants. First 3 results:

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
 

Author(s): Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, Kiet Hua, Christine R Isabella, Ian G Phelps, Allan E Stolarski, Brian J O'Roak, Jennifer C Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G Bönnemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E Ishak, Ian A Glass, Jay Shendure, Stephan C F Neuhauss, Chad R Haldeman-Englert, Dan Doherty, Russell J Ferland

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):62-72.

 

Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole associated protein 1) mutations ...

Last Updated: 6 Jan 2014

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Mutations in CSPP1 lead to classical Joubert syndrome.
 

Author(s): Naiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, Eric Scott, Ali G Fenstermaker, Jana Schroth, Maha S Zaki, Henry Sanchez, Neerja Gupta, Madhulika Kabra, Majdi Kara, Tawfeg Ben-Omran, Basak Rosti, Alicia Guemez-Gamboa, Emily Spencer, Roger Pan, Na Cai, Mostafa Abdellateef, Stacey Gabriel, Jan Halbritter, Friedhelm Hildebrandt, Hans van Bokhoven, Murat Gunel, Joseph G Gleeson

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):80-6.

 

Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, ...

Last Updated: 6 Jan 2014

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Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
 

Author(s): Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque

Journal: PLoS Genet.. 2013 ;9(12):e1003977.

 

Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, ...

Last Updated: 16 Dec 2013

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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" returned 7 free, full-text review articles on human participants. First 3 results:

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
 

Author(s): Marta Romani, Alessia Micalizzi, Enza Maria Valente

Journal: Lancet Neurol. 2013 Sep;12(9):894-905.

 

Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. Neurological signs are present from ...

Last Updated: 16 Aug 2013

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The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
 

Author(s): Shifteh Sattar, Joseph G Gleeson

Journal: Dev Med Child Neurol. 2011 Sep;53(9):793-8.

 

A group of disorders with disparate symptomatology, including congenital cerebellar ataxia, retinal blindness, liver fibrosis, polycystic kidney disease, and polydactyly, have recently been united under a single disease mechanism called 'ciliopathies'. The ciliopathies are due to ...

Last Updated: 3 Aug 2011

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Joubert Syndrome and related disorders.
 

Author(s): Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente

Journal:

 

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. ...

Last Updated: 3 Aug 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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