Orofaciodigital syndrome 6

Common Name(s)

Orofaciodigital syndrome 6

Orofaciodigital syndrome type 6 is one of the 13 types of orofaciodigital syndrome. Orofaciodigital syndromes refers to conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. Each type is distinguished by additional unique signs and symptoms. Cerebellar defects and a central Y-shaped or forked metacarpal are symptoms unique to type 6.     Some individuals with orofaciodigital syndrome 6 have a brain finding called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI).  The molar tooth sign is a hallmark feature of Joubert syndrome, thus orofaciodigital syndrome type 6 may be a subtype of Joubert syndrome.  It is inherited autosomal recessive fashion. 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Orofaciodigital syndrome 6" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Orofaciodigital syndrome 6" 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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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 "Orofaciodigital syndrome 6" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Orofaciodigital syndrome 6" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.