What is Treacher Collins syndrome?

This is a syndrome also referred to as Mandibulofacial dysostosis. The symptoms include the outer ear, micrognathia, coloboma (defect in the lower eyelid), cleft palate, and abnormal hair that reaches the midface. It is a genetic disorder that is inherited through families. The major signs include: colobomas, abnormal eye shape, facial clefts, micrognathia, hearing loss, abnormal ears, but with normal mental intelligence. Plastic surgery can correct some of the congenital birth defects including the ears, eyes, and mouth and jaw regions. 

Treacher Collins syndrome (TCS), also called mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome, is a rare genetic disorder that causes abnormal development of facial bones and tissues, resulting in a wide range of facial defects. Symptoms vary from barely noticeable to severe. In general, most people have underdeveloped facial bones, especially cheekbones.

Hearing loss is a common complication of TCS because some people have malformed ears. In very severe cases, underdeveloped facial bones may make it difficult for the patient to breathe, eat, or both.

About 40% of TCS cases are inherited, while the remaining cases occur randomly without family history of the disorder. The condition appears to affect all populations equally. Researchers estimate that TCS affects about one out of every 50,000 people worldwide.

There is no cure at present for TCS. However, most people with the disorder are able to function normally and have normal intelligence. If life-threatening complications that affect breathing do not develop, patients are generally able to live long, healthy lives. Common treatment options include hearing aids, speech-language therapy, and surgery. Some patients require reconstructive surgery in order to improve symptoms and prevent complications, such as difficulty breathing. Others may undergo reconstructive surgery to improve their facial appearance.

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