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Alternative names
Mandibulofacial dysostosisDefinition Return to top
Treacher-Collins syndrome is a hereditary condition that causes facial defects.Causes, incidence, and risk factors Return to top
Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease.
A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.
Symptoms Return to top
Signs and tests Return to top
The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:Treatment Return to top
Treatment consists of testing for and treating any hearing loss so 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
www.treachercollinsfnd.org
800-823-2055
Expectations (prognosis) Return to top
Children with Treacher-Collins should grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.Complications Return to top
Calling your health care provider 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: 8/6/2003 Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |