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Treacher-Collins syndrome

Definition

Treacher-Collins syndrome is a hereditary condition that causes facial defects.

Alternative Names

Mandibulofacial dysostosis

Causes

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is inherited as an autosomal dominant trait. More than half of all cases are thought to be due to new mutations because there is no family history of the disease.

This condition may greatly vary in severity from generation to generation.

Review Date: 7/2/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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