IntroductionAffects 1 in 50,000 people
Treacher-Collins (TCS) or Mandibulofacial dysostosis
Affects the development of bones and other tissues in the face. Symptoms of TCS are slanted eyes a malformed lower jaw and ears and other facial deformities
Mode of InheritanceOne copy of the altered gene in each cell is sufficient to cause the disorder and about 60 percent of cases are caused from new mutation in the TCOF1 gene. The cases tend to occur in families with no history of the disease.
This gene provides instructions for making a protein called treacle. In other cases someone with TCS inherits the gene from an affected parent.
Clinical Description of disorderEar abnormalities
Absence of eyelashes and or eyelids
cleft lip these abnormalities would make it hard to do basic things that people without the disease do with ease. they would have trouble eating, seeing, and hearing. also, the defects would be visible to everyone.
DetectionTCOF1 is the only gene that is associated with TCS and therefore relatively easy to detect along with the basic characteristics/abnormalities of TCS This makes the disorder visible and easy to detect because of the many differences physically, and mentally.
TreatmentEvery child afflicted with TCS is different but due to the malformed or absent ears that sometimes occur hearing aids are required. early childhood Speech,support and learning classes are available as well as reconstructive surgery to improve appearance and release tension on the face. Having this disease is a social deterrent but with the reconstructive surgery and support classes people afflicted can live a somewhat normal life.
Researchthey continually research surgical and treatment to both stop it from happening and find solutions to help them out. this shows someday the medical and surgical part of the disease may be better in the future.