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

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
 

Author(s): Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato

Journal:

 

Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign. JSRD is classified into six clinical subtypes ...

Last Updated: 28 Mar 2017

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[Sign of the « molar tooth »: characteristic MRI appearance of Joubert syndrome].
 

Author(s): Manel Jellouli, Tahar Gargah

Journal:

 

Last Updated: 18 Feb 2016

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
 

Author(s): Christopher M Watson, Laura A Crinnion, Ian R Berry, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S Charlton, Angus Dobbie, Ian M Carr, David T Bonthron

Journal:

 

The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have been a particular focus of many new services. Here we report a cohort of 26 ...

Last Updated: 5 Jan 2016

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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 10 free, full-text review articles on human participants. First 3 results:

Uncrossed epileptic seizures in Joubert syndrome.
 

Author(s): Pedro López Ruiz, Maria Eugenia García García, Daniela Dicapua Sacoto, Alberto Marcos-Dolado

Journal:

 

Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the 'molar tooth sign', a midbrain-hindbrain malformation identifiable by neuroimaging. Characteristically, the corticospinal tract and superior cerebellar peduncles do not decussate. ...

Last Updated: 24 May 2015

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Tectonic gene mutations in patients with Joubert syndrome.
 

Author(s): Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll, Jutta Gärtner, Carsten Bergmann

Journal: Eur. J. Hum. Genet.. 2015 May;23(5):616-20.

 

So far very few patients with sequence variants in the closely related tectonic genes TCTN1-3 have been described. By multi-gene panel next-generation sequencing (NGS) in patients with Joubert syndrome, we identified two more patients and summarize what is currently known about the ...

Last Updated: 17 Apr 2015

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 23 Aug 2016

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