Treacher Collins syndrome, also called mandibulofacial dysostosis, is a rare genetic condition characterized by deformities of the head and face, leaving the person with droopy eyes and a decentralized jaw due to incomplete development of the skull, resulting in result that can occur in men. as in women.
Due to poor bone formation, people with this syndrome may have difficulty hearing, breathing, and eating, but Treacher Collins syndrome does not increase the risk of death and does not affect the central nervous system, allowing development develop normally.
- This syndrome is mainly caused by mutations in the TCOF1.
- POLR1C or POLR1D gene located on chromosome 5.
- Which encodes a protein with important functions in the maintenance of cells derived from the neural crest.
- Which are the cells that will form the bones of the ear.
- Face.
- And also the ears during the first weeks of embryonic development.
Treacher Collins syndrome is an autosomal dominant genetic disorder, so the probability of contracting the disease is 50% if either parent has this problem.
It’s important for your doctor to make a differential diagnosis of other conditions such as Goldenhar syndrome, acrofacial swimming dysostosis, and Millers syndrome because they have similar signs and symptoms.
Symptoms of Treacher Collins syndrome include
Due to the obvious deformities caused by the disease, psychological symptoms such as depression and irritability may appear, which appear alternately and can be resolved with psychotherapy.
Treatment must be carried out according to the specific symptoms and needs of each person, and although there is no cure for the disease, surgeries can be performed to reorganize the facial bones, improve the condition. aesthetics and functionality of organs and senses.
In addition, treatment of this syndrome also improves possible respiratory complications and feeding problems due to facial deformities and obstruction of hypopharynx with the tongue.
Thus, it may also be necessary to perform a tracheostomy, to maintain an adequate airway, or a gastrostomy, that ensures a good caloric contribution.
In case of deafness, diagnosis is very important, so that it can be corrected with the use of prosthetics or surgery, for example.
The speech therapy session may also be indicated to improve the child’s communication, as well as to assist him in the swallowing and chewing process.