The Treacher Collins syndrome (CTS), also known as facial Disotose Mandibulo is a genetic disorder that causes craniofacial deformities caused by mutations in TCOF1 is transmitted by hereditary inheritance in half the cases.
These mutations in the gene cause flattening of the cheek bones, small chin, small ears, total or partial deafness, palpebral clefts, narrow, cleft palate.
The syndrome was first described in 1846 by Thomsom and more complete studies occurred in 1900 by Treacher Collins.
The disease results in a congenital malformation involving the first and second gill arches, this deficiency occurs during the seventh week of gestation, when facial bones are in formation and the genetic inhibitory action can take place.
Malformations with repercussions in other regions of the body may also occur as in the case of congenital heart disease, cryptorchidism and
mental deficiency .
Treacher Collins syndrome is extremely rare, occurs in 1 in 70,000 live births, in Brazil there are less than 1 thousand cases per year. It is a disease that mainly affects the appearance of the face, such as the jaw, chin and ears, and a plastic surgery can help correct some factors that alter the facial structure.
The most frequent manifestations of Treacher Collins Syndrome is mainly related to the degree of facial deformities, the modifications can be detected and accompanied by the otorhinolaryngologist.
The most common symptoms of Treacher Collins Syndrome are:
– Wide mouth and nose;
– Cleft palate;
– Hearing Loss;
– Scalp to the face;
– Abnormal ears;
– Absence of the cheekbones.
Diagnosis of the disease varies widely, ranging from milder manifestations to severe cases, which can lead to errors in diagnosis. However, if two children of the same couple are considered, the diagnosis may be more evident.
At birth, the child should be examined by the otorhinolaryngologist and audiologist, and identifies the extent of the hearing loss and the degree of impairment of the airways.
The treatment can start from the prenatal phase, oriented to the family as the peculiarities of the anomaly and the necessary care throughout the life.
These patients may present respiratory difficulties in the first months of life due to the malformations presented.
Going to doctors to make the appropriate treatments are critical to the individual’s development, as the child’s face continues to grow, additional procedures may be required to correct any developmental deformity.
The Treacher Collins Syndrome continues to be researched by specialists in order to improve the functional and aesthetic corrections of the Treacher Collins Syndrome patient.