Treacher Collins Syndrome - MacKenzie Darst

Описание: Treacher Collins Syndrome (TCS) can be defined as “an autosomal dominant disorder of craniofacial development characterized by numerous anomalies that are restricted to the head and neck” (Dixon, 1996, p. 1391). It occurs in 1:50,000 births and becomes prevalent as a result of mutations in the gene TCOF1. Common effects of this syndrome include conductive hearing loss and cleft palate. Familiar features also include hypoplasia of the facial bones (mandible) and a zygomatic complex. It is believed that genetic background and environmental factors can contribute to the variation in TCS patients. One of the major challenges facing the TCS clinical and research community in terms of improving the prognosis of those affected or at-risk is in three key areas: detection, repair, and prevention. Ultimately, the long-term goal is to be able to identify a natural compound that can be administered before and/or during pregnancy. One example would be folic acid, which will provide protection for the embryo from apoptosis when the embryo is most susceptible to craniofacial deformities. Preoperative planning and evaluation should begin as early as possible in regard to treatment. Individuals may undergo ear reconstruction surgeries, palatoplasties, tissue resuspensions, and tracheostomies. Wide Smiles, Children’s Craniofacial Association, & March of Dimes are a few examples of support groups.