Collision tricher syndrome

Tricher Collins Syndrome

There are many genetic diseases that lead to severe anomalies and mutations. One of such pathologies is the syndrome of Tricher Collins. This is a serious illness leading to disfigurement of the face.

Pathology is detected at the initial stage of intrauterine development or after the birth of the child. Approximately 1 newborn out of 50 thousand is affected by this mysterious disease.

Pathology is poorly understood, although now in the world there are quite a lot of people with different stages of the disease.

What is Tricer Collins Syndrome?

The pathology was named after the English ophthalmologist, who first described it in the early 20th century.

In another way the disease is called maxillofacial dysostosis.

It is a genetic congenital disease that has a dominant type of inheritance, that is, 100% inherited.

In most cases, pathology is not life threatening, nor does it affect the child's mental and physical development. But sometimes deformities of the skull are so serious that the child can not breathe and eat independently.

Why there is a disease

The syndrome of Tricer Collins develops as a result of a genetic mutation. It appears in the group of genes responsible for the construction of tissues in the area of ​​the skull and face. It is with the help of these genes that the formation of the child's face takes place at an early stage of intrauterine development.

But sometimes there is a failure in their work. Until now, scientists have not clarified the reasons for this pathology. Approximately half of the cases are inherited from one or both parents.

But almost 60% of children get the disease from healthy parents. It's hard to say why this happens. Many factors can affect the child's genes. And the gene responsible for building skull bones can be damaged for the following reasons:

• when a woman uses alcohol, drugs or smoking in the early stages of pregnancy;
• at serious stressful situations;
• due to infection of the woman with infections, for example, toxoplasmosis or cytomegalovirus;
• due to severe chronic diseases;
• when taking certain medications.

The syndrome of Tricher Collins is a genetic disease transmitted by inheritance

Symptoms

Each person has a different manifestation of the disease. There may be one or two symptoms, or a complete set of symptoms.

But a child with the syndrome of Tricher Collins can be recognized immediately. Photos of sick children are on the Internet, often they are similar to each other.

The disease can have such external signs:

1. a wide incision of the eyes, underdevelopment of the lower eyelid, the upper eyelid can acquire a triangular shape, and the outer edge of the eye points downward;
2. The nose is very large compared to other bones of the face;
3. because of the underdevelopment of the cheek bones, the face seems small, "birdy
4. very small chin, lower jaw sometimes absent, so often the tongue does not fit into the mouth;
5. "Wolf mouth" - the absence of bones of the upper sky;
6. "Hare's lip" - splitting of the upper jaw bone;
7. underdevelopment of auditory bones, absence of ears;
8. hair growth on the cheeks;
9. deformation of the thumbs on the hands.

Stages of development of the disease

Symptoms of the Tricer Collins syndrome can manifest themselves, from almost imperceptible to very severe deformations. In accordance with this, three stages of the development of the disease are distinguished.

• At the initial stage, bone deformities are almost invisible. Children with this pathology can lead a normal life.
• The second stage is characterized by serious abnormalities of the development of the bones of the skull. They are joined by pathologies of hearing, teeth, difficulty with breathing or eating.
• The third most severe stage of the disease is characterized by an almost complete lack of face in the child.

In mild cases, the pathology is hardly noticeable

Treatment

We advise you to read: the reasons for congenital dislocation of the hip

Often anomaly is detected during fetal development. Mom is recommended to interrupt pregnancy. If this did not happen, the child will have a difficult and lengthy treatment.

But its peculiarity is that it is possible to correct the deformation only by means of an operation. It is often necessary to perform a variety of plastic operations. But it is not always possible to eliminate all anomalies.

If the reconstruction of the bones of the face was successful, children after the syndrome of Tricher Collins can lead a normal life.

In addition to surgery to correct bone deformities, such patients often require hearing care. After all, the anomalies in most cases extend to the auditory canal. Because many patients suffer from hearing loss.

And with a strong deformation of the jaw bones, dental operations are necessary to restore the teeth and correct the bite.

Sometimes patients require a tracheotomy, because in severe cases they can not breathe on their own.

Complications

The syndrome of Tricer Collins is dangerous for its consequences. Most often it is a hearing loss. After all, the disease is characterized by hypoplasia of the auditory bones, and often there are no ears. A serious consequence is the hypoplasia of the oral apparatus.

The deformation of the jaws and teeth, the absence of salivary glands - this leads to the inability to eat independently.

The respiratory function may also be impaired due to overgrowth of the nasal passages, underdevelopment of the upper palate and the large size of the tongue that blocks the airways.

Sometimes this genetic pathology leads to anomalies in the development of other organs, for example, to heart disease. Strabismus and dental diseases often develop.

How children live with the syndrome

Disease very often does not show any more signs, except for external deformities of the face.

Therefore, patients with Tricer Collins syndrome can successfully adapt to society and develop according to age norms.

Sometimes they need speech therapy to correct speech disorders due to jaw pathologies.

The Tricker Collins syndrome is a life-long diagnosis. But many patients have reconciled with their pathology and lead a normal life.

A source: http://MoyaSpina.ru/bolezni/sindrom-trichera-kollinza

Tricher Collins Syndrome

Tricker Collins syndrome (maxillofacial dysostosis) is a genetic pathology that is characterized by deformation of the craniofacial bones.

The syndrome of Triccher Collins was described in detail in 1900 by the British ophthalmologist Edward Tricher Collins. It is found in 1 out of 50 thousand children.

The cause of the Tricer Collins syndrome is a genetic mutation. In 93% of cases, the defect is found in the TCOF1 gene located on the q-arm of the 5 chromosome. Rarely the POLR1C and POLR1D genes mutate.

The TCOF1 gene is responsible for the coding of a nuclear transport protein that participates in construction many tissues in the period of embryonic development, including in the formation of the bones of the facial part skull.

Mutational changes lead to the appearance of a stop codon, that is, to prematurely stop the synthesis of molecules and self-destruction of the corresponding cells. As a result, facial deformities are observed in children.

Collic's Tricer syndrome is inherited by an autosomal dominant pathway and is marked by significant penetrance (a high likelihood of symptoms). In 60% of cases, the disease is non-hereditary - a genetic mutation occurs after conception.

The syndrome of Tricer Collins is characterized by a variety of expressiveness: severity of symptoms varies from unobtrusive features of the structure of the face to severe deformations, in which erased features.

In most cases, there are the following symptoms:

1. hypoplasia of cheekbones and orbits from two sides - the face seems "sunken" or "birdy
2. underdevelopment of jaw bones (micrognathia) - small mouth and narrow chin;
3. antimongoloid eyes - the outer corners are substantially lowered;
4. Kolokolam (triangular form) century.

Many children show deformations of the jaws and dentition:

• very high ("gothic") sky;
• "cleft palate
• "Open bite" - the teeth are located at a considerable distance from each other;
• absence of teeth.

In some cases, the tongue can not normally be located in the small oral cavity, which causes a risk of suffocation.

As a rule, the symptomatology of the Tricer Collins syndrome is supplemented by disorders in the structure of the auditory canals and the auricles. The main ones are:

1. anoty or microtia - the absence or underdevelopment of the auricles, respectively;
2. atresia (absence) of the auditory meatus;
3. wrong structure of the structure of the middle ear - underdevelopment of the tympanum and auditory bones;
4. deafness.

In some patients deformities of the maxillofacial bones are combined with other developmental anomalies:

• heart disease;
• preauric outgrowths;
• absence of parotid glands;
• atresia of the khuans (nasal congestion) and so on.

Identify the syndrome of Tricer Collins can be in the uterine period with the help of ultrasound or immediately after childbirth. The diagnosis is established on the basis of visual signs - characteristic changes in the facial bones. For its confirmation, a genetic test can be performed.

During the diagnosis, the hearing of the child is necessarily evaluated. The method is chosen according to its age. Main methods:

1. recording of evoked auditory potentials;
2. speech or tonal audiometry.

In addition, tomography of temporal bones is performed to determine the anomalies in the structure of the auditory organs.

The Triccher Collins syndrome is differentiated from the Goldenhar syndrome (hemifacial microsomia) and Nager (acrofacial dysostosis).

Treatment of the Tricer Collins syndrome is carried out by various specialists. It is aimed at the complex elimination of bone deformities and auditory disorders.

The main components of therapy:

• Surgical operations, during which defects of the face are eliminated. As a rule, several complex surgical interventions are required.
• Dental care, the purpose of which is to correct an incorrect bite.
• Hearing - implantation of hearing aids to enhance bone conduction of sounds.

In severe cases, tracheotomy and gastrostomy are performed to ensure respiration and food intake, respectively.

In addition to surgery and prosthetics, the complex therapy of the Tricer Collins syndrome includes conducting corrective sessions with a speech therapist and a surdo pedagogue.

In most cases, bone deformities in the Tricher Collins syndrome do not endanger the child's life.

Children with this pathology do not lag behind in intellectual development provided timely correction of auditory disorders.

The syndrome of Tricer Collins develops as a result of genetic mutations, for this reason it can not be prevented. Couples with a negative family history during pregnancy planning are advised to consult a geneticist.

A source: https://liqmed.ru/disease/sindrom-trichera-kollinza/

Tricer-Collins Syndrome - stages of genetic disease development, complications and prognosis

In medical practice, this pathology is extremely rare.

In this case, the Tricer-Collins syndrome is a congenital disease, the causes of which are due to the fact that the mutated processes the gene of the parents is inherited by the child, whose organism, even at the stage of embryogenesis, begins to experience the severe consequences of this state. Learn about the manifestations of this ailment, as well as about modern methods of its diagnosis and treatment.

What is the Tricer-Collins Syndrome?

This pathological condition is a purely genetically determined disease, which is characterized by congenital deformation of the bones of the skull, or maxillofacial dysostosis. In the medical environment, the Tricer-Collins disease also has another name - Franceschetti syndrome. The disease, as a rule, is inherited from parents with spontaneous gene mutations tcof1.

Tricer syndrome is characterized by the polymorphism of clinical manifestations. In this case, the first signs of the disease occur already at the stage of intrauterine development of the fetus, so the newborn is born with all the symptoms of anomaly of the structure of the skull.

The main symptom of pathology in patients with children is multiple defects of facial bones, which is noticeable even with a fleeting glance at the photos suffering from this ailment. One of the most vivid manifestations of the syndrome is a violation of the normal shape of the eye gap.

Among other symptoms of the disease of Tricer-Collins it is worth highlighting:

1. violation of the development of the osseous structure of the cheekbones, lower jaw;
2. defect of soft tissues of the oral cavity;
3. absence of ears;
4. Kolokolai century;
5. hollow chin;
6. hearing impairment;
7. splitting of the upper sky;
8. violation of bite.

Causes of the disease

The syndrome of Tricer is a genetic disease, the appearance of which in most cases is not affected by any external or internal factors.

We can say that the pathology is initially embedded in the amino acid code of the unborn child and begins to appear long before it is born. It has been scientifically proven that spontaneous changes in the structure of DNA (gene mutations) in individuals with a syndrome occur in the 5 chromosome.

The latter is the longest nucleotide structure in the human genome and is responsible for the production of material for the fetal skeleton.

There are mutations due to failure of intracellular protein synthesis. As a result, the syndrome of haploinsufficiency develops. The latter is characterized by a lack of protein, necessary for the proper development of the facial part of the skull.

However, it should be noted that the Tricer-Collins disease is autosomal dominant, less often autosomal recessive.

The gene defect is inherited by children from sick parents in only 40% of cases, while the remaining 60% arise from new mutations that are often caused by the following teratogenic factors:

• ethanol and its derivatives;
• cytomegalovirus;
• radioactive radiation;
• toxoplasmosis;
• reception of anticonvulsant and psychotropic drugs, drugs with retinoic acid.

Stages of development of the disease

The disease of Tricer-Collins has three stages. At the initial stage of its development, slight hypoplasia of the facial bones is observed.

The second stage is characterized by deformation and underdevelopment of the auditory canals, a small lower jaw, anomalies of the eye fissure, which can be traced in almost all photos of patients with the syndrome. Heavy forms of pathology are accompanied by almost complete absence of the face.

At the same time, signs of a rare disease appear gradually and with age (as can be seen in a retrospective analysis of patients' photos) the problem is aggravated.

Complications

One of the most serious consequences of the syndrome of Tricer is considered to be the underdevelopment of the oral apparatus.

A significant deformation of the teeth, jaws and the absence of salivary glands lead to a lack in patients of the ability to take their own food.

In addition, a congenital anomaly can provoke the appearance of diseases of the respiratory system due to the large size of the tongue and the overgrowth of the nasal passages.

Diagnostics

Prenatal examination of maxillofacial anomalies is performed at the 10-11th week of pregnancy using a chorionic villus biopsy.

The procedure is sufficiently dangerous, therefore doctors prefer to use ultrasound in prenatal diagnosis of the Tricer syndrome. In addition, family members take blood tests.

At the 16-17 week of pregnancy, a transabdominal amniocentesis procedure is performed. After a while, fetoscopy is prescribed and blood is taken from the fetal placental vessels.

Postnatal diagnosis is carried out on the basis of available clinical manifestations.

With full expressiveness of the Tricer syndrome, questions do not usually arise, which can not be said when minor signs of this pathology are found.

In this case, a comprehensive diagnosis of the condition, including the following studies:

1. evaluation and monitoring of feeding efficiency;
2. audiologic hearing testing;
3. fluoroscopy of cranial-facial dysmorphology;
4. pantomography;
5. CT or MRI of the brain.

Similar research methods are used when differential diagnosis is needed to To recognize the not pronounced manifestations of the Tricer-Collins disease and distinguish them from the signs of other pathological states. So, in most cases, specialists appoint additional instrumental studies to differentiate this ailment with Goldenhar syndromes (hemifacial microsomia), Nagera.

Treatment of the syndrome of Tricer-Collins

Today, there are no therapeutic methods to help people with deformities in facial skull structures. The treatment of patients is exclusively palliative. Severe forms of the syndrome are an indication for the operation.

For the purpose of correcting the hearing for those who suffer from a rare anomaly of the auricles, it is recommended to wear a hearing aid. At the same time, one should not forget about psychological help to patients with the syndrome of Tricher.

Support from family members and friends play an important role in the subsequent normal social adaptation of persons with craniofacial dysostosis.

Forecast

Life with the diagnosis of Tricer's syndrome is not an easy test for patients.

Nevertheless, the prognosis depends on the degree of deformation of the facial bones and the severity of clinical conditions associated with the underlying disease.

In most cases, the syndrome is characterized by a favorable (in the medical sense) prognosis. At the same time, social adaptation of patients is often difficult, which negatively affects their overall condition.

A source: http://sovets.net/13665-sindrom-trichera-kollinza.html

Tricher Collins Syndrome

Tricher Collins SyndromeIs a highly genetically dependent disease, which is a subspecies of the general family of diseases-dysostosis: an inborn disorder in the development of bone structures.

By 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.

And the number of these clinical manifestations directly depends on the expressiveness of the disease itself (the number of laid-down clinical manifestations that are sure to manifest).

The syndrome of Tricher Collins is quite a rarity. His incidence is 1 case per 5, 00 newborns.

In addition, this syndrome has a favorable prognostic criterion for later life: these patients do not have mental development, and in small stages of development they can continue to maintain an active social life.

The big threat is the severe stages of the syndrome of Tricher Collins - with their child practically completely there is no face, and the disease is the hardest deformity, which completely cuts off the child from society.

Causes of Collins's Syndrome

Tricker Collins 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 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 lies in 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".

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 complete 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 with 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, the syndrome of haploinsufficiency develops - the amount of protein formed with such a deficiency is simply not enough for synthesizing the future prototype of the bone structure of the facial part of the skull and the subsequent proper development of the bone from it structure.

As a consequence, the formation of a number of deformations of the facial part of the skull develops: a violation of the proportions of its osseous part, atresia (hypoplasia) of the auricles and external auditory canal, complete or partial disturbance of the formation of the right traits face.

Collic's manifestation of Collins syndrome

The syndrome of Triccher Collins 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, and therefore the first signs of the Tricer Collins syndrome can be seen already when the newborn is born.

The main clinical syndrome of the disease is the numerous deformities of the facial skeleton. One of the most striking 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 lower jaw is also disturbed. The lower jaw is small and gives the patient's face a peculiar look, similar to the bird's beak.

In addition to the defect of the lower jaw, a defect in the soft tissues of the oral region 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".

The third bright sign of the disease will be the underdevelopment or absence of the auricles and external auditory canal.

The auricles may be absent completely, be distorted (aplasia), or so-called "false ears" may be formed.

As for the ear canal, it is most often observed its underdevelopment - atresia, as a result of which children with such a syndrome become deaf.

The syndrome of Triccher Collins can have three degrees: initial, medium and heavy. At an initial stage only separate and often insignificant hypoplasia of facial bones are observed.

At the middle (the most common form), external auditory canals, a small lower jaw, deformity and asymmetry of the facial bones and a 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 virtually all traits are not discernible.

Tricer Collins Syndrome Treatment

Since the syndrome of Tricer Collins is a congenital disease and the main cause of its development is the gene deformation in the embryo development period, then the treatment aimed directly at eliminating this genetic defect is not exist. The only current treatment for the Tricer Collins syndrome is purely surgical and implies the surgical elimination of manifestations of the disease: multiple bone defects.

The plastic of the external auditory canal and the correction of the auricle are performed. 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 size, compared with the norm. But the size of the language is normal.

Therefore, in order to prevent asphyxia with a possible occlusion of the tongue with the syndrome of Tricher Collins often carry out the following operative help: the epiglottis is removed and a constant tracheostomy.

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.

A source: http://vlanamed.com/sindrom-trichera-kollinza/

The syndrome of Tricer Collins - why there is a terrible disease and can it be cured?

Today in the world there are many genetic diseases that lead to different mutations and anomalies. A rather serious disease that can change a person's face beyond recognition is the syndrome of Tricer Collins.

Diagnosis of the problem can be still in the period of fetal development, but sometimes it happens after the birth of the baby.

What is the peculiarity of the disease and what signs indicate a pathology? Are there any ways to treat a terrible disease at this time?

The syndrome of Tricer Collins is definitely one of the most horrible genetic diseases that can destroy a person's life. But modern medicine, faith and love of loved ones, as well as the strength of the spirit - a powerful stimulus, helping sick people to live a full life

Features of the disease

The first mention of such a disease is mentioned in 1900, when the ophthalmologist Edward Tricher Collins described in detail the patient with obvious physical impairments: defects in the face, eyelids and lips, strabismus.

At the same time, patients have a change in the shape of the ears and chin. This is due to the underdevelopment of the frontal, cheekbone and jaw bones.

and the photo with the syndrome of Tricher Collins clearly shows how the deformities of the human face can occur with such a violation.

In Wikipedia, you can learn the detailed information about the disease, as well as how people live with such an anomaly.

Usually, such a pathology does not affect the physical and mental development of the child, but in some particularly difficult cases, problems with nutrition and breathing are possible.

The main factor that leads to the disease is a congenital anomaly in the gene of the fifth chromosome.

It is he who is responsible for the encoding of the protein (nucleolar phosphoprotein) and actively participates in the formation of the osseous-facial part of the fetus.

Against the background of a decrease in protein, the functions of pPHK change, leading to a reduction in the proliferation of cells along a specific trough in the embryo. As a result of the contraction and self-destruction of some cells, there is an underdevelopment of bone tissue and a characteristic deformation of the face.

Causes of the disease

Maxillofacial dysostosis is a disease that in 40% of cases has an autosomal dominant heritage. Simply put, it is passed on to the child from one or both parents. But most often, in 60% of cases, such changes occur against the background of mutations of the child's genes.

The causes of the Tricer Collins syndrome may be as follows:

• The use of alcohol, nicotine and drugs during pregnancy (especially in the early stages);
• Infection with infections such as cytomegalovirus, toxoplasmosis, etc .;
• Stressful situations;
• Severe chronic diseases;
• Reception of medications with strong side effects (psychotropic, anticonvulsants, and also on the basis of retinoic acid);

Effects of radioactive radiation and herbicides.

There is a syndrome because of the mutation of just one gene, which is responsible for the correct formation of bones in the facial part

Symptoms of the disease

It should be noted that changes in the maxillofacial structure of the face occur with different intensity, respectively, and manifestations also differ. The most common signs of the disease are:

1. Bilateral hypoplasia or facial sinking. Often this symptom is described as a "sunken "bird's" face;
2. Small mouth and not fully developed chin;
3. The outer corners of the eyes are strongly lowered;
4. The eyelids are triangular in shape.

So, as the bone changes affect the entire face, deformation is also observed in the area of ​​the jaws and teeth. In this case, there is a development of a rather high sky, "wolf mouth the location of the teeth at a fairly large distance from each other, as well as their complete absence.

Children suffering from the syndrome of Tricer Collins are characterized by underdevelopment of the auricles.

In most cases, they suffer from hearing loss, which is observed as a result of a disruption in the development of the tympanum and auditory bones.

Some patients, along with the Tricer Collins syndrome, suffer from other abnormalities, for example, heart failure, overgrowth of nasal passages, and the appearance of prearicular outgrowths.

Stages and complications

Depending on the complexity of the mutation process, the manifestations can be both completely invisible and pronounced. Based on the intensity of three stages of the disease:

• At the very first stage of deformation, the skull and bones are almost invisible. Therefore, a child can lead a normal life and not be different from other children.
• The next stage is clearly pronounced and the anomalous deformation of the bones is quite strong. In this case, complications such as difficulty with breathing, eating, and pathologies of teeth and ears are possible.
• The third stage is considered to be the most serious, which is characterized by an almost total lack of face. In such a situation, no treatment or plastic surgery is able to change anything.

Complications against the syndrome of Tricher Collins include deafness (due to underdevelopment of the hearing aid), inability take food (lack of salivary glands and small mouth), as well as the possibility of suffocation (the tongue simply does not fit in the mouth cavity). Frequent problems are also with the teeth, which are sometimes completely absent.

The syndrome has a small number of stages and complications, while the first can be called the most sparing, because the deformation of the face is almost invisible.

Diagnosis - tomography of the temporal part

It is necessary to understand that it is possible to diagnose a genetic disease already at the first stages of pregnancy. In order to see if there are any deviations in the fetal development of the fetus, ultrasound is performed.

Based on the results, you can see any changes or disorders from the development of the osseous-facial system.

To confirm the diagnosis, it is recommended to conduct a genetic test that can either confirm or disprove suspicions.

In addition, after childbirth, a visual examination of the child is also carried out, and in the future his hearing is checked. The main methods of assessment are selected from age:

• Registration of auditory potentials;
• Tonal and speech audiometry.

To detect abnormal development of the hearing aid, tomography of the temporal part is performed.

Treatment

In the case when the disease is diagnosed during fetal development, a woman is recommended to have an abortion.

Otherwise, immediately after birth, the child will need a qualified comprehensive treatment for the elimination of defects, as far as possible.

Therapy consists of the following actions:

1. Surgical intervention, during which defects of the face are eliminated. Usually, several operations are necessary to reduce manifestations of the disease. It all depends on the complexity of the case.
2. Dental procedures. Usually, the child is diagnosed not only with dental problems, but also with a wrong bite, which can be corrected with the help of dentists.
3. To improve the bone-conduction of sounds, you will need to install hearing aids.

If the child has problems with breathing and feeding, then surgery will be needed to solve these problems (tracheotomy and gastrostomy). For the further adaptation of the child, it will be necessary to work with speech therapists and surdopedagogists.

Life with mutation

That same Julian, who suffers from this syndrome in its most severe manifestation.

From the point of view of development, such people are absolutely no different from the average person, but under certain complications there may be problems with breathing or feeding

In the UK, a young man lives - John Lancaster, who, despite this serious illness, continues to lead a full life. At the moment he is about 26 years old. Immediately after birth, the parents refused an unhealthy child, frightened of the upcoming difficulties associated with his upbringing.

Despite this, the child was made complex operations, as a result of which his appearance changed slightly. At the moment, the young man actively helps and supports children suffering from the syndrome of Tricer Collins, and also travels the world.

On the example of his life, he proves that despite the genetic anomalies one must live and enjoy every moment. John Lancaster has a loving girl who supports him in everything.

Younger sister Adeline Sotnikova (Russian figure skater and Olympic champion) - Maria also has a genetic disease.

Back in the hospital, when it became known about the illness of the baby, the doctors began to recommend leaving it. But the parents did not abandon their daughter and decided to take care of her.

Masha Sotnikova has already experienced quite a lot of operations that have corrected her appearance. But due to the fact that the girl is growing, she still has surgical interventions.

Adeline Sotnikova spends all her fees on her treatment and in no way is ashamed of her sister. She believes that such people need to be perceived as special and requiring special care.

Juliana - this is the most complex and terrible case of manifestation of the disease. The girl was born in 2003 with almost no face, since about 40% of the facial bones were absent.

But in spite of this the child survived and after a dozen of the operations carried on leads the child's usual life. Gradually from year to year, with each new procedure, she acquires a face.

Juliana will soon go to school and lead a life that is common to all other children.

A source: http://Simptom-Lechenie.ru/sindrom-trichera-kollinza-foto-simptomy-i-lechenie.html

Tricker Collins Syndrome: Causes and Treatment of Disease

The syndrome of Tricer-Collins is called a hereditary disease, characterized by deformation of the skull and face bone structures. Another name for the disease is maxillofacial dysostosis.

Pathology occurs in one newborn in 50 thousand babies. More details about the syndrome of Tricer-Collins and the life of people with defects at the gene level are described in the article.

Tricer-Collins Syndrome: causes of the disease

Edward Tricher Collins described the main disorders that occur in sick people, more than a hundred years ago. Pathology was appropriately named. Modern medicine prefers to use other terms - mandibulofascial dysostosis or Franceschetti-Collins syndrome.

The main factor that leads to the development of the disease is a congenital anomaly in the gene of the 5th chromosome.

This gene is considered responsible for the encoding of the protein involved in the correct formation of the bones of the facial part of the skull during the intrauterine development of the child. The protein is called the nucleolar phosphoprotein.

At the end of the first month of pregnancy, the facial fetus is filled with mesenchymal tissues, which in the second month already differentiate into bones and connective tissue elements.

The disease can occur in the case of teratogenic effects of the following factors:

• ethanol and its derivatives;
• radioactive radiation;
• cytomegalovirus;
• toxoplasmosis;
• the effect of herbicides;
• preparations based on retinoic acid;
• anticonvulsant drugs;
• psychotropic drugs.

Symptoms of pathology

The main manifestations of the syndrome of Tricer-Collins are:

1. lowered corners of the eyes;
2. underdevelopment of the zygomatic bones on both sides;
3. absence of part of the tissues of the century
4. underdevelopment of the jaw bone;
5. absence or small size of the shells of the ears;
6. absence or infection of external auditory canals of an innate character;
7. anatomical defects in the middle ear;
8. "Bird's face".

Since the temporal bone is a complex element of the craniofacial part, in some cases the entire severity of the lesions the anatomical and physiological features of the external auditory canal and internal structures of the ear are difficult to estimate.

Visual inspection of the sick person allows to determine the absence of eyelashes in the lower eyelid, in some cases - cleft palate. With the syndrome of Tricer-Collins, birth defects and disruption of the heart and the elements of the musculoskeletal system (in addition to the facial department) are possible.

Features of life of a person with the syndrome of Tricer-Collins can be seen in the documentary "The New Face of Juliana."

This is the story of the American girl Juliana Wetmore, who has a severe form of the disease.

At the age of eleven years the child has already transferred more than 50 operations, but the treatment is still ongoing.

Juliana's parents also have an older healthy daughter. They wanted another child, however, they were afraid to plan it because of the possibility of transmitting a gene mutation. In return, parents adopted a Ukrainian girl who has the same genetic disease, but in less severe manifestation.

Treatment of the syndrome of Tricer-Collins

This disease, like many other genetic defects and disorders, can not be treated. Used palliative therapy, which allows you to maintain the patient's life at a sufficient level.

Hearing aids are used to correct auditory functions, and to improve speech, a specialist speech therapist is needed.

A number of other plastic operations for the treatment and restoration of anatomical defects is shown.

John Lancaster and the Tricer-Collins Syndrome

John Lancaster is a guy living in the UK. At the moment he is 26 years old. Biological parents abandoned John immediately after his birth, they could not reconcile with The child was adopted by another couple who could provide it to everyone. necessary.

Lancaster suffered several plastic surgeries, which changed his appearance a little.

John is fond of traveling, spending a lot of time with children who have the Tricer-Collins syndrome, giving them support.
The guy has a beautiful, loving his girlfriend.

At the moment, he shows by his example that even with genetic abnormalities, one can live and enjoy life.

Sister Adeline Sotnikova and Tricer-Collins Syndrome

Adeline Sotnikova is the Russian Olympic champion in figure skating. Her younger sister Masha has a genetic disease, which became known recently, after the victory of Adeline in Sochi.

After the birth of the younger sister of parents, Adeline began to prepare in the hospital for the fact that the patient with a syndrome Trycher-Collins child will have to leave, but they refused, having made a decision to take care of her daughter and fight for her health.

Adeline Sotnikova spent her fees on the treatment of Masha's sister. The girl still has surgical interventions, because she continues to grow.

A source: http://www.academ-clinic.ru/sindrom-trichera-kollinza.html