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Treacher-Collins syndrome

Contents of this page:

Alternative Names   

Mandibulofacial dysostosis

Definition    Return to top

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

Causes    Return to top

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.

Symptoms    Return to top

Exams and Tests    Return to top

The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:

Genetic tests can be done to look for mutations on the TCS1 gene.

Treatment    Return to top

Treatment consists of testing for and treating any hearing loss so that a child can perform up to normal level in school. Plastic surgery can address the receding chin and other defects.

Support Groups    Return to top

Treacher Collins Foundation --

Outlook (Prognosis)    Return to top

Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

This condition is usually apparent at birth. Call your health care provider if you have a child with Treacher-Collins syndrome and the hearing appears to be worse, or if other problems arise. A good plastic surgeon is very important, as there is sometimes a need for a series of operations over years to correct birth defects.

Prevention    Return to top

Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome.

Update Date: 7/2/2007

Updated 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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