Craniofaciocardioskeletal Syndrome

Overview

Type of disease: Rare conditions

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.

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