Treacher Collins Syndrome: History, Causes, Symptoms, Diagnosis and Treatment

It is a hereditary disease in which some tissues and bones of the face do not develop.

People suffering from this disease are characterized by having a genetic disorder from the gestation process that impairs the development of facial bones and tissues, mainly affecting the eyelids, cheekbones, jaw and ears.

The Teacher Collins syndrome can cause other complications depending on the degree of the affected person’s condition, in severe cases it leads to respiratory problems, cleft palate, hearing loss and sight.

History

The facial features of this syndrome were first described in 1900, thanks to the studies and findings of the British doctor, surgeon and ophthalmologist Edward Treacher Collins.

In 1949, the doctors David Klein and Adolphe Franceschetti, referred to this physical condition as mandibulofacial dysostosis, a term used to describe the clinical characteristics.

But it was not until 1977 that a New York Times article dealing with this genetic disorder first attracted the attention of readers of the time in the United States.

After that fact, clinical, university and documentary studies have been published, as well as experiences of people suffering from this condition in television programs.

The important thing is that the society is educated and knows the Teacher Collins syndrome in depth as well as the relatives of the patients so that they understand the condition of the affected and how they could help him.

Causes

The mutant gene that develops the syndrome is not hereditary and neither is it curable, however, thanks to advances in medicine it can be managed with reconstructive surgery, hearing aids, speech therapy, among other methods that depend on the patient’s condition. suffers

Several studies suggest that out of every 50,000 people only one possesses it, therefore, the possibilities of transmitting it are almost nonexistent.

However, it is essential that the parents of the affected person study themselves to determine if the genetic disorder comes from them, since the father could suffer from the same syndrome in a mild way without a clinical diagnosis, which would increase to 50% the possibility of have another child with this condition.

symptom

The characteristics of people suffering from the Teacher Collins syndrome vary depending on the degree of affection, even for having mild or moderate features, remain undiagnosed until reaching a mature age, just when the body has fully developed.

To identify patients with this condition, some of the following physical patterns can be observed:

  • Ears small and deformed or missing.
  • Small, slanted eyes
  • Lack of tissue in the eyelids.
  • Notch in the lower eyelids.
  • Small cheekbones
  • Cleft palate.
  • Jaw and small chin.

It is important to point out that the most common physical anomalies are the underdevelopment of the lower jaw, causing a deficient occlusion in the teeth and the deformation of the zygomatic bone that gives a sunken appearance in the cheeks.

In the most affected, the external ear is small, deformed or even completely absent, which can lead to the absence of external auditory channels.

The anomalies observed less frequently are high-arched palate, nasal deformities , preauricular displacement of the hair, macrostomy, hypertelorism and congenital heart defects.

People who are unaware of the characteristics and anomalies of the Teacher Collins syndrome can associate facial deformities with intellectual disability or disability, but those affected have their mental capacity at 100%.

Diagnosis

The mutant gene linked to the Teacher Collins syndrome can be detected in the gestation period with an amniocentesis or with chorionic villus samples.

Treatment

Because it is a disease that affects the development of the bones and facial tissues, the recommendation to solve the deficiencies of the malformations is through surgical interventions of multiple disciplines.

It is essential to carry out surgeries on time and thus prevent respiratory problems due to hypoplasia of the jaw and obstruction of the hypopharynx; sometimes, they may require a tracheotomy to maintain an adequate airway, as well as improve hearing and visual problems.

One of the most important treatments is the psychological one, given that those affected when entering society, can acquire symptoms related to anxiety, depression , social phobia and body image disorders.

Especially when at a young age they are objects of discrimination, intimidation, nicknames, ridicule, rejection in schools and public recreation areas.