People with more severe cases of Treacher Collins syndrome may require several medical procedures and many surgeries. To begin, many individuals with Treacher Collins syndrome have trouble breathing or eating easily. These problems exist because there isn't enough space along the throat and jaw to create an adequate airway. When this happens, a tracheostomy may be necessary to create this airway. People with Treacher Collins syndrome also often receive cleft palate surgery around the age of one. Later, many patients also require bone grafts to help correct for missing cheek or orbital bones. Shortly after, patients often require ear reconstruction or an external device to make it easier to hear clearly. Other surgeries are also often required to correct eyelids, noses, or the soft tissue on the face.
Most cases of Treacher Collins syndrome are caused because of mutations in the TCOF1 gene. This specific gene creates proteins, which play an important role in the early development of bones and other tissues in the face. When there is a mutation in the TCOF1 gene, it negatively impacts the production of ribosomal RNA (rRNA). This decrease in rRNA results in the destruction of certain cells that are involved in facial bones and tissues.

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