Treacher Collins Syndrome

Chang, Christopher C. M.D.
Steinbacher, Derek M. M.D., D.M.D.

¹Section of Plastic Surgery, Yale University School of Medicine, New Haven, Connecticut

Address for correspondence and reprint requests Derek M. Steinbacher, M.D., D.M.D., Section of Plastic Surgery, Boardman 3rd Floor, 330 Cedar Street, New Haven, CT 06511 (e-mail: [email protected]).

Seminars in Plastic Surgery 26(2):p 83-90, May 2012.

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.