Joubert syndrome

Common Name(s)

Joubert syndrome

Joubert syndrome is a genetic disorder that affects many different parts of the body. The most common finding in people with Joubert syndrome is the underdevelopment of an area in the brain that controls balance and coordination (cerebellar vermis). This underdeveloped area is called a molar tooth sign because it looks like a molar tooth when viewed on a brain MRI. In addition to this brain finding, most people with Joubert syndrome have weak muscle tone (hypotonia) in infancy, poor coordination (ataxia), unusually fast breathing, abnormal eye movements, and developmental delays. People with Joubert syndrome may also have a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth.

Other symptoms of Joubert syndrome that are less common include eye abnormalities, kidney problems, liver disease, skeletal abnormalities (extra fingers and toes), and problems with hormone function. The signs and symptoms of Joubert syndrome can vary from person to person, even between members in the same family. Joubert syndrome is usually inherited in an autosomal recessive manner. Mutations (changes) in multiple genes are associated with Joubert syndrome. These genes provide instructions for making cilia, little finger like projections on the outside of cells that are important for cell signaling and communication. A person with mutations in a cilia gene cannot make normal cilia (called a ciliopathy).

Joubert syndrome is typically diagnosed when a person has a brain MRI that shows a molar tooth sign. Genetic testing may be necessary to confirm the diagnosis. There is no cure for Joubert syndrome, but there are treatments that can address the symptoms. If your child has been diagnosed with Joubert syndrome, talk with your doctor about the most current treatment options. Meeting with genetic counselor or specialist may be helpful. Support groups are also a good resource.

Source: Advocacy organizations associated with the condition.

 

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

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 19 May 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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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General Support Organizations

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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

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 19 May 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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

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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 73 free, full-text research articles on human participants. First 3 results:

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
 

Author(s): Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente

Journal:

 

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also ...

Last Updated: 4 Jun 2014

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Joubert syndrome: the clinical and radiological findings.
 

Author(s): Ekrem Karakas, Nesat Cullu, Omer Karakas, Mustafa Calik, Fatima Nurefsan Boyaci, Sema Yildiz, Hasan Cece, Ali Akal

Journal: J Pak Med Assoc. 2014 Jan;64(1):91-4.

 

Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. ...

Last Updated: 10 Mar 2014

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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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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 8 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: findings at conventional magnetic resonance image and at diffusion tensor imaging].
 

Author(s): A Burguete Moriones, T Cabada Giadás, M C Bacaicoa Saralegui, F J Annicherico Sánchez

Journal: Radiologia. ;54(3):279-82.

 

We present the case of a 20-year-old man previously diagnosed with cerebral palsy in whom a developmental disorder was detected at physical examination. After cranial CT and conventional cranial MRI, we diagnosed Joubert syndrome. We completed the study with diffusion tensor imaging ...

Last Updated: 5 Jun 2012

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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: 6 Jan 2015

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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: 21 Jul 2015

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