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Rare Diseases 2023

SíTreacher Collins syndrome: what é, causes, symptoms and treatment

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SíTreacher Collins syndrome: what é, causes, symptoms and treatment
SíTreacher Collins syndrome: what é, causes, symptoms and treatment

Treacher Collins Syndrome, also called mandibulofacial dysostosis, is a rare genetic disease characterized by malformations of the head and face, leaving the person with droopy eyes and an off-center jaw due to incomplete skull development, it can happen to both men and women.

Due to poor bone formation, people with this syndrome may have a lot of 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 to proceed 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 the maintenance of neural crest-derived cells, 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 disease, so the probability of contracting the disease is 50% if one of the parents has this problem.

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

Possible symptoms

Treacher Collins syndrome symptoms include:

  • Sloppy eyes, cleft lip or roof of mouth;
  • Ears too small or missing;
  • Absence of eyelashes;
  • Progressive hearing loss;
  • Absence of some facial bones, such as cheekbone and jaw;
  • Difficulty chewing;
  • Breathing problems.

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

How the treatment is done

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

In addition, the treatment of this syndrome also consists of improving the possible respiratory complications and feeding problems that occur 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, diagnosis is very important, so that it can be corrected with the use of prostheses or surgery, for example.

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

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