Varadi Papp syndrome

Common Name(s)

Varadi Papp syndrome, Orofaciodigital syndrome 6

Varadi-Papp syndrome is one of a group of oral-facial-digital syndromes (OFD) when a part of the brain known as the cerebellar vermis does not form correctly. Varadi Papp syndrome can present with many different physical traits and each child may be affected differently. Features often include cleft lip or palate, lumps on the tongue, extra skin tissue in the mouth, abnormally shaped or missing teeth, extra fingers and toes, poor growth or short stature, and facial differences most often affecting the eyes including strabismus (muscular problem in the eyes), wide-set eyes (hypertelorism) and an extra fold of skin at the inside corner of the eyes (epicanthal folds). An underdeveloped brain and variable intellectual disability or developmental delays are also common. Other less common findings may include abnormalities of the heart, genitalia, liver, kidneys, breathing difficulties, and muscular problems.

Varadi-Papp syndrome is a genetic disorder and results from a mutation or error in a person’s DNA or genes. It is inherited in an autosomal recessive manner. Typically people have two copies of every gene. Recessive means that both copies of the gene responsible for causing Varadi-Papp must have an error for the individual to be affected or have the condition. Genetic counseling can help in understanding the genetics, recurrence risks and more about the condition and available resources.

Varadi-Papp syndrome is set apart from other types of OFD syndromes by a Y-shaped bone in one or more fingers or toes which can be seen on x-ray. While there is currently no cure for Varadi Papp syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care. Research is ongoing, so talk with your child’s doctor about the most current treatment options. Support groups are also good sources of support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Varadi Papp 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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Varadi Papp 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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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 "Varadi Papp syndrome" 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 "Varadi Papp syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.