Treacher-Collins syndrome

Alternative Names

Mandibulofacial dysostosis

Definition of Treacher-Collins syndrome

Treacher-Collins syndrome is a condition that is passed down through families (hereditary) and leads to defects of the face.

Causes, incidence, and risk factors

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). More than half of all cases are thought to be due to new gene changes (mutations) because there is no family history of the disease.

Signs and tests

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

Treatment

Treatment involves testing for and treating any hearing loss so that a child can perform at a normal level in school. Plastic surgery can treat the and other defects.

Expectations (prognosis)

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.

Review

Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 8/11/2009

ADAM Medical Encyclopedia

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