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Tricker Collins Syndrome

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Collucus syndrome photos Collinder's Tisser Syndrome is a genetically dependent disease, which is a subspecies of the common family of diseases-dysostosis: an inborn disorder in the development of bone structures. Under the word dystostosis is meant the underdevelopment and disturbed ossification of bone tissues, especially those that originate from connective tissue prototypes during embryogenesis. In the case of Tricer Collins syndrome, dysostosis of the skull bones occurs. Moreover, the number of these clinical manifestations directly depends on the expressiveness of the disease itself( the number of laid-down clinical manifestations that will necessarily manifest).

Collins's Tricer Syndrome is quite a rarity. His incidence is 1 case per 50,000 newborns. In addition, this syndrome is characterized by a favorable prognostic criterion for later life: these patients have not disrupted mental development, and at insignificant stages of development they can continue to conduct active social life. The big threat is the severe stages of the syndrome of Tricher Collins - with them the child has almost no face at all, and the disease is the hardest deformity, which completely cuts the child from the society.

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Collins cause triglycer Syndrome

Collker's Tricer Syndrome is an autosomal dominant disease. This means that the defective gene of this disease is not associated with the sex chromosome, which means that it can be equivalent in both men and women. In addition, this gene is dominant, which means that if present in the body, the Tricer Collins syndrome manifests itself in 100% of the presence of this gene.

Thus, the development of the Tricher Collins disease does not depend on the impact of any harmful external and internal factors. We can say that this disease is already embedded in the genetic code of the unborn child and begins to unfold long before his birth.

The cause of the appearance of the Tricer Collins syndrome in a newborn child is covered even at the stage of embryogenesis of the fetus and the process of laying the organs. It is at this time, or rather at the 7th week of embryo development, a mutation occurs in a particular chromosome of the human genetic code - the 5th chromosome. This chromosome is the longest in the human genome, and it is it responsible for the synthesis of the material for the future bone skeleton. As a result, a special mutation occurs in this chromosome - the so-called "nonsense mutation".The peculiarity of this mutation lies in the features of intracellular protein synthesis. Normally, such an important process as protein biosynthesis occurs as follows: the DNA chain "rewrites" the information to an auxiliary unit - RNA.Literally speaking, RNA is cloned, recording a certain sequence of DNA segments. These sites represent a certain sequence of constituent parts of nucleotides, each of which carries its own particular information. But in addition to nucleotides, there are also special genes, which are called "stop codons."These genes perform a special function - in the subsequent assembly of the protein based on RNA, they end the construction of the protein molecule.

After the RNA is created with complete information, similar to the information of the maternal DNA, it is transported to a special cellular organ-ribosome. It is she who is engaged in the synthesis of the future protein - the basis of the cellular structure of certain organs. RNA passes through the ribosome, or rather through its functional regions. These sites interact with RNA, "read" from it information and produce protein chains, where each of them corresponds to its nucleotide on RNA.But when the functional center interacts with the stop codon described above, it receives information about the termination of protein synthesis. In their own words, stop codons, as it were, "cut off" individual polypeptide chains from the total mass, where each has its own structure. Later, these chains will be assembled into protein molecules.

But in the Tricher Collins syndrome in the 5th chromosome, a gene called TCOF1 fails - in the place of normal nucleotides capable of creating a polypeptide chain, a stop codon is formed. As a result, with further synthesis, premature termination of protein assembly occurs, and such a protein turns out to be defective. As a result, the syndrome of haploinsufficiency develops - the amount of protein formed with such a deficiency is simply not enough to synthesize the future prototype of the bone structure of the facial part of the skull and the subsequent proper development of the bone structure from it.

As a consequence, the formation of a number of deformations of the facial part of the skull develops: violation of the proportions of its bony part, atresia( hypoplasia) of the auricles and external auditory canal, complete or partial disruption of the formation of the correct features.

Collins Syndrome of

Syndrome Tricer Collins syndrome has a huge number of clinical manifestations, and very often one patient has only a part of these manifestations. The disease itself is congenital, or rather even embryonic, which means that the first signs of the Tricer Collins syndrome can be seen already when a newborn is born.

The main clinical syndrome of the disease is the numerous deformities of the facial skeleton. One of the most vivid manifestations will be a violation of the normal shape of the eye gap. With this symptom, the outer corner of the eye will not be directed upwards, as in the norm, but downwards. And this manifestation will be observed from two sides. Also defects of the triangular form will be formed - the so-called colobolics.

In addition to breaking the incision of the eye, there will be underdeveloped cheekbones. Usually, in the Tricher Collins syndrome, they are very small, which leads to a violation of the symmetry of the facial features. In addition to the malar bones, the development of the zygomatic processes of the temporal bone and the lower jaw is also impaired. The lower jaw is small and gives the patient's face a peculiar look, similar to the bird's beak. In addition to a defect in the lower jaw, a defect in the soft tissues of the mouth can also develop and an excessively wide mouth slit may form. Sometimes, these defects can also be supplemented by the splitting of the upper sky, more commonly known as the "wolf mouth".

Also serious changes affect the dental formula: in the Tricher Collins syndrome, molars are immature, and the teeth themselves are widely spaced apart, which causes a significant bite violation.

The third bright sign of the disease will be the underdevelopment or absence of the auricles and external auditory canal. The ears can be absent completely, be distorted( aplasia), or so-called "false ears" can be formed. As for the auditory canal, it is most often observed its underdevelopment - atresia, as a result of which children with such a syndrome become deaf.

Collisor's Tricer Syndrome can have three degrees: primary, middle and heavy. At an initial stage only separate and often insignificant hypoplasia of facial bones are observed. At the middle( the most common form), the external auditory canals, the small lower jaw, deformity and asymmetry of the facial bones and the violation of the normal eye gap will be underdeveloped. In severe form, all the changes described above become severe, visually in children with this form are absent and almost all facial features are not discernible.

Collins Syndrome Syndrome

Treatment Since the Tricer Collins Syndrome is a congenital disease and the main cause of its development is gene deformation in the embryo development period, there is no treatment aimed directly at eliminating this genetic defect. The only current treatment for the Tricer Collins syndrome is purely surgical and involves surgical removal of the manifestations of the disease: multiple bone defects.

Plastic of the external auditory canal is performed and correction of the auricle. In cases of the disease, where there is a wolf mouth - spend her surgical treatment.

In addition, in severe cases of this congenital disease, there is a severe underdevelopment of the lower jaw, in which it acquires a very small, compared with the normal size. But the size of the language corresponds to the norm. As a result, the tongue simply does not fit in the pathologically small jaw and can sink, causing asphyxia in the child. Therefore, in order to prevent asphyxia with possible tongue twisting with Tricher Collins syndrome, the following surgical manual is frequently performed: an epiglottis is removed and a tracheostomy constant is established.

It is important to understand that the treatment of the Tricer Collins syndrome is a complex multistep process and involves a number of plastic surgeries. A full cycle of treatment of the disease can last for several years, and even decades. The main principle of such treatment: gradual, gradual removal and correction of defects. In some cases, complete removal of the defect is impossible and palliative operations are performed - surgical interventions to improve and facilitate the patient's life.

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