6. What Else is the Syndrome Called?
Treacher Collins Syndrome is also known by other names that we thought we should share with you on our list on facts you need to know about Treacher Collins Syndrome. The syndrome is often called by names such as: Treacher Collins-Franceschetti Syndrome, Zygoauromandibular Dysplasia, Franceschetti-Zwahlen-Klein Syndrome and Mandibulofacial Dysostosis (MFD1). All these terms refer to the same syndrome that is under discussion here.
Treacher Collins Syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D gene. In most cases, which may occur between 80 to 90 % of times, the responsible gene is TCOF1. In some cases, there is unidentified mutation in one of these genes; researchers are still working on discovering the cause of the condition in such cases. Studies and researches have also revealed that when the amount of rRNA decreases, it destructs cells that are responsible for development of facial bones and tissues. This may be one of the explanations regarding the cause of syndrome in some cases. However, it is still unknown as to why the reduction in rRNA limits the development of facial bones.