Treacher Collins syndrome is a condition that is passed down through families (hereditary). It leads to problems with the structure of the face.
Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.
This condition may vary in severity from generation to generation and from person to person.
Symptoms may include:
The child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:
Genetic tests can help identify gene changes linked to this condition.
Hearing loss is treated to ensure better performance in school.
Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
FACES: The National Craniofacial Association -- www.faces-cranio.org/home.html
Children with this syndrome typically grow to become functioning adults of normal intelligence.
Complications may include:
This condition is most often seen at birth.
Genetic counseling can help families understand the condition and how to care for the person.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.