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), but 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.
Outer part of the ears are abnormal or almost completely missing
Defects in the eye (coloboma that extends into the lower lid)
Decreased eyelashes on the lower eyelid
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.
Genetic counseling can help families understand the condition and how to care for the patient.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Katsanis SH, Jabs EW. Treacher Collins syndrome. 2004 Jul 20 [Updated August 30, 2012]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews [serial online]. Seattle, WA: University of Washington, Seattle; 1993-2013. Accessed September 8, 2013.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.