The Treacher Collins syndrome It is a pathology of genetic origin that affects the development of the bone structure and other tissues of the facial area. At a more specific level, although those affected usually present a normal or expected intellectual level for their level of development, they present another series of alterations such as malformations in the auditory canals and in the ear ossicles, palpebral fissures, ocular colobomas or cleft palate, among other.
Treacher Collins syndrome is a rare medical condition, so its incidence is estimated at approximately one case per 40,000 births, approximately.
Furthermore, experimental and clinical studies have shown that most cases of Treacher Collin syndrome are due to a mutation present on chromosome 5, specifically in the 5q31.3 area..
As for the diagnosis, it is usually made based on the signs and symptoms present in the affected individual, however, genetic studies are necessary to determine chromosomal abnormalities and, in addition, rule out other pathologies.
Currently there is no cure for Treacher Collins syndrome, normally medical specialists focus on controlling the specific symptoms in each individual. Therapeutic interventions can include a wide variety of specialists, in addition to different intervention protocols, pharmacological, surgical, etc..
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Treacher Collins syndrome is a disorder that affects craniofacial development. Specifically, the National Treacher Collins Syndrome Association defines this medical condition as: "Alteration of development or cranioencephalic malformation of congenital genetic origin, rare, disabling and without a recognized cure".
This medical condition was first reported in 1846 by Thompson and by Toynbee in 1987. However, it is named after British ophthalmologist Edward Treacher Collins, who described it in 1900..
In his clinical report, Treacher Collins described two children who had abnormally elongated lower eyelids with notches and absent or poorly developed cheekbones..
On the other hand, the first extensive and detailed review of this pathology was carried out by A. Franceschetti and D. Klein in 1949, using the term mandibulofacial dysotosis.
This pathology affects the development and formation of the craniofacial structure, for which the affected individuals will present various problems, such as atypical facial features, deafness, eye disorders, digestive problems or language disorders.
Treacher Collins syndrome is a rare disease in the general population. Statistical studies indicate that it has an approximate prevalence of 1 case per 10,000-50,000 people worldwide.
In addition, it is a congenital pathology, so its clinical characteristics will be present from the moment of birth..
Regarding the distribution by sex, no recent data have been found that indicate a higher frequency in any of these. In addition, there is no distribution associated with particular geographic areas or ethnic groups..
On the other hand, this syndrome has a nature associated with de novo mutations and hereditary patterns, therefore, if one of the parents suffers from Treacher Collins syndrome, they will have a 50% probability of transmitting this medical condition to their offspring..
In the cases of parents with a child with Treacher Collins syndrome, the probability of having a child with this pathology again is very low, when the etiological causes are not associated with heritability factors..
There are different alterations that can appear in children who suffer from this syndrome, however, they are not necessarily present in all cases..
The genetic abnormality of Treacher Collins syndrome will cause a wide variety of signs and symptoms, and in addition, all of these will fundamentally affect the cranio-facial development.
In summary, the alterations that we can expect to appear in children with Treacher Collins syndrome will affect the mouth, eyes, ears and breathing..
The clinical course of this medical condition will give rise to a particular neurological scheme, characterized by:
In some cases, the delay in the development of various areas or in the acquisition of skills is due to the presence of medical complications and / or physical abnormalities or malformations.
Alterations in the facial, auditory, oral or ocular structure will cause a series of significant medical complications, many of which are potentially serious for the affected person:
Of these symptoms, both the presentation / absence and the severity, can vary considerably between affected people, even among members of the same family.
In some cases, the affected person may have a very subtle clinical course, so Treacher Collins syndrome may remain undiagnosed. In other cases, serious abnormalities and medical complications may appear that put the individual's survival at risk..
As we have pointed out previously, Treacher Collins syndrome has a genetic nature of a congenital type, therefore, affected people will present this medical condition from birth.
Specifically, most of the cases are associated with the presence of abnormalities in chromosome 5, in the 5q31 area..
In addition, different investigations throughout the history of this syndrome have indicated that it may be due to specific mutations in the TCOF1, POLR1C or POLR1D genes..
Thus, the TCOF1 gene is the most frequent cause of this pathology, representing approximately 81-93% of all cases. For their part, the POLR1C and POLRD1 genes give rise to approximately 2% of the rest of the cases..
This set of genes appears to have a significant role in the development of the bone, muscle and skin structure of the facial areas..
Although a good part of the cases of Treacher Collins syndrome are sporadic, this pathology presents a pattern of inheritance from parents to children of 50%.
The diagnosis of Treacher Collis syndrome is made based on clinical and radiological findings and, in addition, various complementary genetic tests are used.
In the case of clinical diagnosis, a detailed physical and neurological examination is followed in order to specify these. Normally, this process is carried out based on the diagnostic criteria of the disease.
One of the most used tests in this evaluation phase is X-rays, these are able to offer us information about the presence / absence of craniofacial malformations..
Although certain facial features are directly observable, X-rays give precise and exact information on the development of the maxillary bones, the development of the skull, or the development of additional malformations..
Furthermore, in cases in which the physical signs are still very subtle or in which it is necessary to confirm the diagnosis, various genetic tests can be used to confirm the presence of mutations in the TCOF1, POLR1C and POLR1D genes..
Also, when there is a family history of Treacher Collins syndrome, a prenatal diagnosis is possible. Through amniocentesis we can examine the genetic material of the embryo.
There is currently no curative treatment for Treacher Collins syndrome, so experts focus on treating the most common signs and symptoms..
In this way, after the initial confirmation of the pathology, it is essential that an evaluation of possible medical complications is carried out:
The realization of all these anomalies is essential for the design of an individualized treatment adjusted to the needs of the affected person..
Thus, for the management of this individualized treatment, the presence of professionals from different areas such as pediatrician, plastic surgeon, dentist, audiologist, speech therapist, psychologist, etc. is usually required..
Specifically, all medical complications are divided into several temporal phases to address their medical therapeutic intervention:
In all these phases, both the use of drugs and surgical reconstruction are the most common therapeutic techniques.
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