X



Our Syndrome. Your Information.

Our best hope for finding new treatments and raising awareness is your participation in JS-LIFE, the JSRDF patient-centered registry.

Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today.
*only one survey is necessary per affected individual


 

Joubert Syndrome UK

 



 

Syndromes Explained

The information has been reproduced with kind permission from the Joubert Syndrome Foundation & Related Cerebellar Disorders website.  Click here for more information.



Joubert Syndrome | Print |

Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and co-ordination.

The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem.

The most common features of the disorder 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.

 
Varadi Papp Syndrome | Print |

Oral-facial-digital Syndrome, type VI or OFD, type VI)
Varadi-Papp syndrome refers to one type of oral-facial-digital (OFD) disorder. This particular OFD syndrome occurs as part of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis.

The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website.  Click here for more information.

 
Senior Løken | Print |

Juvenile Nephronophthisis with Retinal Dystrophy)
Senior-Løken syndrome refers to a disorder in which there is the combination of nephronophthisis with retinal dystrophy.

In some individuals, Senior-Løken syndrome can occur as part of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis. These disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website.  Click here for more information.

 
Dekaban - Arima Syndrome | Print |

Cerebellar Vermis Hypoplasia with Leber Amaurosis and multicystic kidneys - Dekaban-Arima syndrome refers to a disorder in which there is a visual deficiency and renal insufficiency.

This disorder occurs as part of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis. The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website. Click here for more information.

 
Cogan - Type Oculomotor Apraxia (O.M.A.) | Print |

Cogan Syndrome, Type II - Cogan-type congenital oculomotor apraxia (Cogan-type OMA) refers to a specific eye movement abnormality.

In some individuals, this type of OMA can occur as part of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis. The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website.  Click for more information.

 
COACH Syndrome | Print |

Cerebellar vermis hypoplasia/aplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis - COACH is a mnemonic, whose name refers to the different characteristics of the disorder.

It is one member of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis. The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website.  Click here for more information.

 
Juvenile Nephronophthisis | Print |

Juvenile nephronophthisis with cerebellar malformation - refers to a disorder in which there is a particular form of renal insufficiency.

In some individuals, juvenile nephronophthisis can occur as part of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis. The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website. Click here for more information.

 
Meckel Gruber Syndrome | Print |

To Be Completed

 


Disclaimer
Information contained on this website is not intended to replace information you have received from Doctors or other Health Professionals.
You should always consult with a Medical Professional for medical advice.
JSUK does not endorse any products nor can we be held responsible for any external links and their content.
Copyright 2010 - 2015  WWW.JSUK.ORG