The Treacher Collins or Franceschetti-Zwahlen-Klein syndrome, also called facial jaw dysostosis, is a rare genetic condition that causes facial deformity and abnormalities. The condition may be inherited or acquired during embryonic development. Approximately one in 50,000 children is affected, and this pathology is named after the English surgeon and ophthalmologist Edward Treacher Collins, who first described it in 1900.
The disease is caused by mutations of DNA genes known as TCOF1, POLR1C, and POLR1D. These genes appear on chromosomes 5, 6, and 13 and are required for the proper development of the bones and soft tissues of the face in the absence of mutations. To produce this anomaly, either parent must carry out a hereditary mutation or the condition must be acquired during embryonic development. In terms of statistics, there are more cases of the second type of mutation (i.e., mutations acquired during embryogenesis) than the first type (i.e., hereditary mutations) at 60% against 40%.
In particular, the syndrome affects the face in the following ways:
Severe cases of the syndrome can result in:
However, in even more serious cases, the patient also suffers a host of further consequences, including deficits in breathing and chewing due to abnormalities of the cheekbones, jaw, chin, and teeth, hearing problems caused by abnormal ear development, as well as a loss of vision.
The patient is generally intelligent and does not have a modification of his intellectual qualities; however, psychologically, patients suffer from depression and social phobia as a result of living with facial deformities, and this affects their quality of life.
A doctor can make a diagnosis in various ways: first, they begin by examining the patient's medical history and performing a physical exam; they may also conduct a genetic test, which searches for mutations in critical genes and can be used to highlight any mutations. Following the diagnosis of the syndrome, other diagnostic tests such as CT and X-rays will be ordered to clarify the patient's clinical picture. Additionally, amniocentesis and CVS can be used to diagnose prenatally.
The disease is neither curable nor preventable but, once diagnosed, it is possible to intervene with facial surgical treatment and other tools capable of managing its symptoms. Based on the severity of the disease, deformities of the palate, cheekbones, nose, ears, and teeth may require a series of maxillofacial surgeries. As with corrective glasses in the case of vision problems, and hearing aids in the case of hearing loss, it is essential to use psychological therapy to overcome the depressive and phobic effects of deformities.