Treacher Collins syndrome is a rare genetic birth defect that often causes deformities in the size and shape of various facial features. In some cases, symptoms are so mild that they generally go unnoticed, even by patients.

In many other cases, Treacher Collins syndrome causes significant physical deformities, including underdeveloped cheekbones and jawbones, deformity of the roof of the mouth (cleft palate), eyelid problems and ear deformities. Hearing loss and breathing difficulties are also commonly associated with this condition.

A single gene abnormality causes Treacher Collins syndrome. This gene is found on chromosome 5. A mutation of this gene may occur during its development or through transfer of a mutated gene from parent to child.

Early diagnosis of Treacher Collins syndrome – well before a child’s first birthday – is essential. Physical deformities of the syndrome may interfere with proper breathing or feeding of infants. Hearing loss often associated with the syndrome can lead to language and other developmental difficulties. A physician will likely perform a physical examination and collect a patient’s medical history. Genetic testing and hearing tests may also be performed.