Treacher Collins syndrome
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Autosomal trisomies: Pathology review
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High Yield Notes
7 pages
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Summary
Treacher Collins syndrome (TCS) is a rare genetic disorder that affects the development of the bones and tissues in the face. The condition is caused by mutations in one of several genes involved in craniofacial development.
Symptoms of TCS can include underdeveloped or absent cheekbones, a small jaw and chin, down-slanting eyes, and malformed or absent ears. These physical abnormalities can result in hearing and vision problems, breathing difficulties, and difficulty with feeding and speech.
Treatment for TCS often involves a multidisciplinary approach, with a team of specialists working together to address the individual's specific needs. This can include reconstructive surgery to co