Treacher Collins syndrome is a genetic disorder characterized by eye, cheekbone, and ear deformities. The disorder can affect individuals on a sliding scale of severity, so some patients will have mild cases while others will have severe cases. Treacher Collins syndrome can cause issues such as cleft palate, breathing problems, and speech problems. Usually, the disorder does not cause deficits in intelligence.
Treacher Collins syndrome is an autosomal dominant trait most commonly caused by a genetic mutation rather than through inheritance, and it is usually diagnosed through x-ray imaging and genetic testing. Currently, the disorder is not curable, but its symptoms can be managed.
Treacher Collins syndrome can cause severe malformations of the mouth, and it can cause the ears to malfunction. This can make it extremely hard for a patient with Treacher Collins syndrome to speak, which is when speech therapy can become an important piece of treatment. A speech-language pathologist can help find deficiencies in the patient's speech by interviewing and assessing the individual.
Afterward, the speech therapist will come up with a treatment plan to help their patient cultivate and improve their language skills. This usually involves learning how to make and understand language sounds along with other related tasks. This treatment could last a short or long time depending on the needs of each patient.