What is treacher collins syndrome, causes, symptoms and treatment

Treacher Collins syndrome, also called mandibulofacial dysostosis, is a rare genetic disease characterized by malformations in the head and face, leaving the person with droopy eyes and a decentralized jaw due to incomplete skull development, which can happen both in men as in women.

Due to poor bone formation, people with this syndrome may have great difficulty hearing, breathing and eating, however, Treacher Collins syndrome does not increase the risk of death and does not affect the central nervous system, allowing development take place normally.

Causes of Treacher Collins syndrome

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 maintaining 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 embryo development.

Treacher Collins syndrome is an autosomal dominant genetic disorder, so the likelihood of contracting the disease is 50% if one parent has this problem.

It is important for the doctor to make the differential diagnosis of other diseases such as Goldenhar's syndrome, Nager's acrofacial dysostosis and Millers' syndrome, as they present similar signs and symptoms.

Possible symptoms

Symptoms of Treacher Collins syndrome include:

  • Droopy eyes, cleft lip or roof of mouth;
  • Very small or absent ears;
  • Absence of eyelashes;
  • Progressive hearing loss;
  • Absence of some facial bones, such as cheekbones and jaws;
  • Difficulty in chewing;
  • Breathing problems.

Due to the evident deformations caused by the disease, psychological symptoms can appear, such as depression and irritability that appear alternately and can be resolved with psychotherapy.

How the treatment is done

Treatment should be done according to the symptoms and the specific needs of each person, and although there is no cure for the disease, surgeries can be performed in order to reorganize the facial bones, improving the aesthetics and functionality of the organs and of the senses.

In addition, the treatment of this syndrome also consists of improving possible respiratory complications and feeding problems that happen due to facial deformities and obstruction of the hypopharynx by the tongue.

Thus, it may also be necessary to perform a tracheostomy, in order to maintain an adequate airway, or a gastrostomy, which will guarantee a good caloric intake.

In cases of hearing loss, the diagnosis is very important, so that it can be corrected with the use of prostheses or surgery, for example.

The speech therapy session can also be indicated to improve the child's communication as well as help in the process of swallowing and chewing.