Craniofaciocardioskeletal Syndrome

Common Name(s)

Craniofaciocardioskeletal Syndrome

Craniofaciocardioskeletal Syndrome, also called Cantu Syndrome, is a rare genetic disorder, with about three-dozen people with the condition being recorded in medical literature. The syndrome is characterized by many features, including: thick and excessive body hair, with head hair often extending onto the forehead; thickened facial features; heart problems, such as enlarged heart size and malformed heart structures; and skeletal anomalies, including thickened rib and skull bones, flattened spine bones, cone-shaped flaring at the end of arms and leg bones, and a bulging breastbone. The condition is caused by a mutation in the ABCC9 gene, with only one gene needing to be affected to cause the syndrome. Although the condition can be passed on from parent to child (a parent with Cantu Syndrome has a 50 percent chance of passing the syndrome to any offspring), most cases are the result of a new mutation. There is no cure for Cantu syndrome, but the associated features can often be improved or repaired through physical therapy or surgery. The Cantu Syndrome Interest Group seeks to form a support network for those with the condition and their families.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Craniofaciocardioskeletal Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Craniofaciocardioskeletal 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 "Craniofaciocardioskeletal 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.