Affecting the formation of facial structures, Treacher Collins syndrome is an uncommon disorder. This abnormality tends to result from sporadic gene mutation; however, there is evidence of genetic markers, and these birth defects can run in families as well.
Dr. Francesco Gargano, one of the most experienced Reconstructive Surgeons in Manhattan, and can diagnose and treat the multitude of concerns associated with Treacher Collins syndrome. He utilizes the latest diagnostic technology available to create a customized treatment plan designed to help your child achieve the best outcome possible during Treacher Collins treatment.
Dr. Francesco Gargano understands that your child’s care and comfort are your top priorities, and so he is dedicated to helping you in getting the best results for your child.
About Treacher Collins Syndrome
Treacher Collins Syndrome, also known as Mandibulofacial Craniosynostosis is a condition that affects the development of the bones and tissues of the face. It is estimated that Treacher Collins syndrome affects 1 in 50,000 people.
How does this disorder occur?
Treacher Collins is linked to one of three genes being mutated: POLR1C, POLR1D, TCOF1. A significant majority of cases stem from changes in the gene TCOF1. For many years this disorder was assumed to be completely random; however, individuals with this disorder can potentially pass it on. Sometimes, two parents who show no signs of having this condition will have more than one child with the birth defect, suggesting a recessive genetic predisposition. In most cases, there will be no Treacher Collins family history.
Regardless of whether the child has a family history or spontaneously developed the condition, Treacher Collins is not caused by any action or inaction on the part of the parents during pregnancy.
Signs and symptoms of Treacher Collins
Signs can vary greatly in severity and number in the case of Treacher Collins. The cheeks, jaw, and chin will in most cases be significantly malformed or underdeveloped. Structural deformities can affect one or both sides of the face, and the effect of flattening on the cheeks and lower eye socket (malar prominence and zygomatic arch) leads to a drooping facial appearance. The downward-slanting eyes further underline this result. The mouth may seem oversized (macrostomia) in many cases, and the lower jaw (mandible) will be underdeveloped or missing. The ears are going to be small, misshapen, or absent, and they could sit on the head very low. The inner ear bones are often poorly formed, causing hearing impairment or loss, which with surgery or a hearing aid may or may not be corrective.
Because of the number and variety of traits associated with this disorder, it’s essential to develop a customized treatment plan. Every person will experience the disorder a little differently, even though they are members of the same family. Dr. Francesco Gargano, one of the Best Plastic and Reconstructive Surgeons in NYC, is committed to providing personalized attention and care to every patient he sees.
If you have a child or another family member who is suffering from Treacher Collins, contact us today. Call us at +1 917 794 8468 (Midtown Office) and +1 973 718 3360 (UES Office) or book an appointment now.
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