What Is Treacher Collins Syndrome?

Treacher Collins syndrome is a birth defect characterized by a range of distinctive craniofacial anomalies that can affect the eyes, ears, cheeks, palate and jaw. Children with this condition may require a series of surgeries over years. Depending on the severity, the condition may require surgical techniques including airway reconstruction, cheek reconstruction, jaw reconstruction, ear reconstruction and cleft palate repair.

The pediatric plastic surgery and craniofacial teams at The Children's Hospital of Philadelphia are among the most experienced in the world in caring for children with Treacher Collins syndrome. Watch this video to learn more about the treatment options available.


What is Treacher Collins syndrome?

Jesse Taylor, MD: Treacher Collins syndrome is a heritable disorder that affects about 1 in every 50,000 live births. It affects the eyes, the ears, the cheeks, and can create hypoplasia, or undergrowth in each of those areas. It also affects the palate, sometimes resulting in a cleft palate, and a lower jaw, often creating a smaller than normal lower jaw. It can also affect some other parts of the body.

Treacher Collins syndrome can present with a high degree of variability, with some individuals being affected quite mildly while others are very severely affected. In some cases, Treacher Collins syndrome can be diagnosed prenatally, but most cases are diagnosed after birth. We may collect a DNA sample to sample the genes that can be affected by this syndrome.

To further our knowledge of the exact anatomy, we may gather X-ray data, CT scans, or other imagining tests to help us further define how severely affected an individual might be.

The treatment of Treacher Collins syndrome varies tremendously from patient to patient. Timing can be critical. And if a child is born with a critical airway issue, they may require airway reconstruction shortly after birth.

Other surgeries such as surgery on a cleft of the palate, the ears, the cheeks, or the eyelids, can be delayed until later in childhood after a child has met specific developmental milestones.

A patient and family with Treacher Collins may choose to come to The Children’s Hospital of Philadelphia for several reasons. One is our team which has an extensive experience in treating kids with Treacher Collins syndrome. We work with a variety of multi-disciplinary specialists throughout our medical community to optimize care in every realm. Whether it’s ear reconstruction, cheek reconstruction, jaw reconstruction, or other aspects of the Treacher Collins syndrome.

Our multi-disciplinary team of experts creates a customized treatment plan for every child. And then we reevaluate as they continue to go through childhood and grow. So that at every time point, we optimize their outcome.

Topics Covered: Treacher Collins Syndrome

Related Centers and Programs: Craniofacial Program, Neonatal Craniofacial Program, Division of Plastic, Reconstructive and Oral Surgery