If there is one characteristic common to many rare diseases, it is that they have a basic genetic component. We are talking about genomic alterations that occur at random, or the cause of which has not yet been found.
One such disease is Treacher Collins syndrome and is associated with a very characteristic facial appearance.. In this article, we will look at its features, associated issues, and treatment options.
What is Treacher Collins Syndrome?
Treacher Collins syndrome is a genetic disease that affects the craniofacial development of the fetus. This developmental impairment is characterized by symmetrical otomandibular dysplasia on both sides of the face and which is related to various abnormalities of the skull and neck.
Dysplasia refers to an abnormality in the appearance of cells caused by adulteration caused during the process of cell maturation. This cellular anomaly is irreversible and is exteriorized by alterations in the development of a tissue, an organ or any anatomical part of the organism.
In patients with Treacher Collins syndrome, this dysplasia affects the development of the cheekbones, ears and jawbone. In addition, other such visible indicators are a reduced pharynx or alterations in the formation of the palate.
Traitor Collins is believed to appear in 1 in 10,000 embryos. Children of parents of those affected have a 50% chance of developing this syndrome, and its severity can vary unpredictably. On the other hand, in 55% of Treacher Collins cases, the genetic alteration occurs spontaneously, without the causes being clearly established.
This syndrome is named after the English-born surgeon and ophthalmologist Edward Treacher Collins, who discovered a number of common patterns or symptoms in different people and described them in 1900. Later, in 1949, A. Franceschetti and D Klein detailed these same peculiarities. syndrome i they named it mandibulofacial dysostosis.
Symptoms and physical characteristics
There are a number of physical characteristics, both visible and internal, as well as alterations in some very distinctive perceptual processes in Treacher Collins syndrome.
With regard to the alterations of craniofacial development, we find the following characteristics:
- Lack of cheekbones due to hypoplasia of the zygomatic bones.
- Respiratory obstruction.
- Alterations of the outer ear.
- Sunken eyelids.
- Lack of tabs.
- Palate alterations: Left, crack or left.
- Conductive deafness caused by an alteration of the bear chain.
As for the physical features of his face, People with Treacher Collins have:
- Eyes down.
- Cracks in the lower eyelid.
- strabismus (Not in all cases).
- Wide mouth.
- prominent nas.
- Chin often.
- Deformities in the ears.
Children with Treacher Collins syndrome are likely to suffer from a number of problems related to breathing, hearing, sight, and hands. Although these problems do not always appear, they can become quite debilitating, the respiratory problems being the most harmful for the health of the child.
Underdevelopment of the jaws it forces the tongue to be placed in a more posterior position, very close to the throat; resulting in a narrower airway than usual.
Therefore, parents should pay special attention when children develop some kind of infection or cold which can inflame or congest the airways.
Due to changes in the formation of the inner ear, it is absolutely necessary that it be performed an assessment of the child’s hearing ability as soon as possible.
In most cases, patients have deafness of up to 40%, so it is necessary to have a device that facilitates listening.
Vision problems are one of the most distinguishing features of Treacher-Collins syndrome. The presence of drooping lower eyelids can cause very recurring dry eyes.
Problems in the hands
The problem is, they have less of an impact on these people. however, some patients are born with changes in the thumbs, Being able to be considerably small or even born without them.
However, in cases where the baby is born without both thumbs, a careful assessment and diagnosis should be done as it could be Nager syndrome, which has symptoms very similar to Tracer Collins.
Thanks to the progress of scientists in genetics, recently was discovered in a specific gene that gives rise to Treacher Collins syndrome.
The gene in question is TCOF1, also known as molasses. this gene acts on the reproduction in January of ribosomal DNA, Remaining active throughout embryonic development. More precisely in the areas intended to become bones and tissues of the face.
The diagnosis of Treacher Collins syndrome is supported by the evaluation of the clinical picture cited above, as well as by additional examinations and molecular analyzes which certify the diagnosis. These molecular analyzes they can be done during the prenatal period, Chorionic villus sample collection (CVS).
Also, ultrasounds performed at this stage can reveal both the facial dysmorphia and the alterations of the ear so characteristic of this syndrome.
Treatment and prognosis
Treacher Collins Syndrome Treatment it must be carried out by a group of craniofacial specialists who work in constant synergy, in coordination with each other.
Teams of craniofacial specialists they are particularly qualified for the treatment and surgical practice of alterations linked to the face and the skull. These teams include:
- Anthropologist specializing in cranioencephalic measurements.
- Craniofacial surgery.
- Pediatrician anesthetist.
- Pediatric dentist.
- Pediatric intensivist.
- Pediatric neurosurgeon.
- Pediatric nurse.
- Pediatric otolaryngologist.
- Psychologist for children and adolescents.
- Social worker.
- Speech Therapist.
Regarding the prognosis, usually children with Treacher Collins syndrome they mature properly becoming adults of normal intelligence without any need for attention or addiction. However, they may need the help of psychotherapy to deal with issues related to self-esteem and possible social inclusion issues.