Treacher Collins syndrome is a genetic (sometimes hereditary) disease accompanied by deformations of the bones and soft tissues of the face. Symptoms include gross defects in the structure of the face: anti-Mongoloid eye shape, cuttings of eyelid tissue (colobomas), reduced jaw and cheekbone sizes, hypoplasia and abnormalities of ear structures, cleft or arched palate, increased size of the mouth and tongue, underdeveloped facial bones. Diagnosis is made by clinical examination, biogenetic test and family history. Treatment is symptomatic, aimed at improving hearing, eliminating life-threatening deformities and cosmetic defects surgically.

ICD-10

Q75.4 Maxillofacial dysostosis

General information

Treacher Collins syndrome has several synonyms: maxillofacial dysostosis, Treacher Collins-Francheschetti syndrome, mandibulofacial dysostosis. The pathology was first described by British ophthalmologist Edward Treacher Collins in 1900, so the most common name corresponds to his name. An extensive review of the disease was made in 1949 by European researchers E. Franceschetti and D. Klein. Currently, the concept of "Treacher Collins syndrome" is more common in the UK and USA, and the term "Franceschetti-Klein syndrome" is more often used in European countries. The epidemiology of the disease is 1:50,000. The incidence is the same among boys and girls.

Reasons

The development of the syndrome in 78-93% of cases is caused by mutations of the TCOF1 gene, located on the fifth chromosome in the 5q32 region. This gene encodes the production of the nuclear phosphoprotein Treacle. In 7-9% of patients, the cause of the disease is a defect in the POLR1C gene, located on the sixth chromosome, or the POLR1D gene, located on the thirteenth chromosome. They are responsible for the synthesis of RNA polymerase I and III.

With mutations in the TCOF1 gene, the type of inheritance of the syndrome is autosomal dominant with a penetrance rate of 90%. This means that if there is a mutation in one chromosome of a pair, the likelihood of the disease occurring is very high. An affected parent has a 50% risk of having a child with Treacher Collins syndrome. Hereditary transmission of the defect and sporadic genetic changes (new mutations) are possible. The expressiveness of the mutation is variable - within one family, it is likely that the symptoms of the disease will either weaken or intensify in subsequent generations. With defects in the POLR1C and POLR1D genes, inheritance occurs in an autosomal recessive manner. In couples where a parent has the syndrome, the probability of having a sick baby is 25%.

Pathogenesis

The fifth chromosome is responsible for the correct formation of the skeleton during intrauterine development. The TCOF1 gene localized in it encodes the structure and synthesis of the nuclear transport protein Treacle. This protein is expressed in most body tissues in the embryonic and postembryonic period and is involved in the transfer of genetic information from DNA to RNA.

The syndrome is most often based on a nonsense mutation, leading to the formation of a premature termination codon and the development of haploinsufficiency - a deficiency of a protein necessary for the normal formation of the facial part of the skull. A healthy gene provides the body with Treacle protein by half, but this amount is not enough for the proper development of facial structures. With changes in the POLR1D and POLR1C genes, the process of DNA transcription is disrupted due to a deficiency of the enzyme catalyst DNA-dependent RNA polymerase. The clinical manifestations of the syndrome are the same as with primary Treacle protein deficiency.

Symptoms

Patients have abnormalities in their facial structure. A common feature, occurring in 80% of cases, is bilateral symmetrical hypoplasia of the zygomatic bones, infraorbital margin and mandible. Outwardly, this manifests itself as a kind of flattened, shapeless face, on which the nose stands out, and the remaining parts are “recessed” in the soft tissues. Deformation of the jaw causes malocclusion, the formation of orthognathia (constantly open mouth). 89% of patients have a limited ability to open the mouth and an anti-Mongoloid type of eye shape with a noticeable drooping of the outer corner. These features are partly due to the pathological structure of the temporomandibular joint.

In 69% of patients, coloboma of the iris and lower eyelids is determined in the interval between the middle and outer third, most often it has a triangular shape. There are no eyelashes on the outer edge of the lower eyelid. The palate is arched, sometimes a cleft is formed (in 28% of patients). Anomalies of the external ear are represented by underdevelopment or complete absence of the auricle (microtia, anotia), atresia of the external auditory canal and deformation of the auditory ossicles. Often patients have conductive hearing loss. In rare cases, enchondroma, pretragal fistulas, and abnormal structure of the heart and spine are diagnosed.

Complications

Micrognathia and stenosis of the upper respiratory tract can cause problems with eating and breathing difficulties, even suffocation, even in the first years of life. Timely diagnosis of the disease makes it possible to predict these complications and take measures to prevent them. As a rule, patients do not have congenital intellectual disorders, but in the absence of correction of hearing impairments, correct speech formation and learning under normal conditions become impossible. Children begin to lag behind their peers in mental development and have mental retardation of varying severity. Due to the presence of defects in appearance and the negative attitude of others, patients of all ages are at risk for depression, hypochondria, anxiety and other neurotic disorders.

Diagnostics

The diagnosis can be made during pregnancy or immediately after birth. The examination is indicated for women at risk and children with congenital facial deformities. Geneticists and pediatricians take part in the diagnostic process. Treacher-Collins syndrome must be differentiated from other genetic diseases in which there is deformation of the facial part of the skull, for example, Nager syndrome and Goldenhar syndrome. The following methods are used:

• Examination, history taking. Characteristic craniofacial anomalies are determined: underdevelopment of the bones of the cheekbones and jaw, deformation and hypoplasia of the auricles, anti-Mongoloid type of palpebral fissures, hearing impairment and defect of the upper palate. Sometimes one of the parents has a confirmed diagnosis of the syndrome.
• Biogenetic test. Antenatal examination includes a molecular analysis of a chorionic villus sample at 10-11 weeks of pregnancy, fetoscopy and a blood test from the placental vessels at 18-20 weeks. After birth, blood is drawn from the baby's vein. In both cases, the TCOF1 gene is examined. The disease is confirmed if there is a mutation of any type in it.
• Prenatal ultrasound. From 20-24 weeks of pregnancy, ultrasound examination of the fetus can reveal typical facial changes. The most clearly noticeable is bilateral ear anomaly, hypoplasia of the cheekbones and jaw.

Additionally, examinations are prescribed to allow timely detection of life-threatening conditions and assessment of the degree of deformation of the skull bones. The effectiveness of feeding the child, the level of hemoglobin oxygen saturation, rhythm and depth of breathing are determined. To diagnose the preservation of hearing, non-invasive ventilation is performed on days 5-6 of life. If it is impossible to consume food, a gastrostomy tube is installed.

Hearing restoration. Deformation of the outer and middle ear is eliminated surgically, but hearing loss is often caused by damage to the auditory small bones, so surgical interventions to eliminate hearing loss are ineffective. Rehabilitation with hearing aids is preferred.

Elimination of external defects. Deformities are corrected using plastic and mandibular-facial surgery methods. Liposculpture, surgical bone distraction, placement of grafts and surgical reconstruction of the palate are used.

Prognosis and prevention

Comprehensive treatment and rehabilitation significantly improves the quality of life of patients. With mild to moderate severity of the syndrome, the prognosis is favorable. Prevention is difficult because the disease is genetic and mutations can occur spontaneously. Married couples in which one parent is sick need medical genetic counseling and perinatal diagnosis of the syndrome in the early stages of pregnancy. To reduce the risk of carrying a sick child, an in vitro fertilization procedure with preliminary selection of genetically healthy embryos is recommended.

Treacher Collins syndrome (TCS) is a genetically determined pathology caused by a mutation of the gene of chromosome 5 and manifested by external deformities, including facial disfigurement. Defective formation of the skull bones occurs during fetal development. Underdeveloped jaw, zygomatic, frontal and other bones give sick children a characteristic appearance. Since the disease is congenital, such anomalies are detected immediately after birth. Modern diagnostic methods make it possible to identify the syndrome in utero and prevent the birth of a sick child.

The syndrome got its name in honor of an ophthalmologist from England, who at the beginning of the 20th century first described the clinical signs and etiopathogenetic features of the disease. The pathology occurs in 1 in 50 thousand newborns. Currently, the syndrome has not been fully studied, although there are many people with its various forms living in the world.

boy with Treacher Collins syndrome

The disease usually does not pose a serious threat to the lives of patients and does not affect their mental development. In some cases, severe deformation of the skull prevents the child from breathing and eating independently. By limiting the patient's airway, underdeveloped facial bones become the cause of life-threatening diseases.

TDS has another name - maxillofacial or mandibulofascial dysostosis. If a mother or father in a family suffers from this disease, the children will certainly inherit it, since the syndrome is transmitted according to a dominant principle. Deformations of the face and skull formed in the early stages of pregnancy can be caused not only by hereditary factors, but also by spontaneous gene mutation. Both boys and girls get sick equally often. The syndrome according to ICD-10 has code Q75.4 and the name “Maxillofacial dysostosis”.

Clinical manifestations of the syndrome can differ significantly from person to person and range from almost imperceptible facial defects to severe cranial deformation. Patients are born with strabismus, coloboma of the eyelids, small mouth and chin, and impaired hearing. Some children have a hole in the mouth - the so-called “cleft palate”, drooping outer corners of the eyes, and sparse eyelashes. STK does not interfere with the child’s intellectual development. Patients with external deformities gradually adapt to life conditions and difficulties. Some become depressed, not wanting to accept their “unusual” appearance.

Etiology and pathogenesis

The only etiopathogenetic factor of Treacher Collins syndrome is considered to be a genetic mutation. A congenital abnormality in the structure of the fifth chromosome is the cause of the disease. This is the longest nucleotide structure in the human genome and is responsible for the production of material for the fetal skeleton. In the patient's body, the biogenesis and functions of ribosomal RNA are disrupted, intracellular protein synthesis fails, and the process of division of embryonic neural tube cells slows down. Their self-destruction leads to underdevelopment of bone tissue and the formation of a disfigured child’s face at the early stage of embryogenesis. The disease can be diagnosed as early as the second month of pregnancy.

The syndrome in 100% of cases is inherited from a sick mother or father according to a dominant principle. If there is a burdened family history, then sick children will certainly be born in this family with this pathology. The expressivity and penetrance of the gene determine different degrees of severity of the defect, which varies in different patients from moderate to extremely severe.

In some cases, the syndrome is not inherited, but is formed due to a new gene mutation after conception. Children with the syndrome are born from absolutely healthy parents. Mutation can occur under the influence of factors that have a teratogenic effect on the fetus:

• alcohol abuse by a pregnant woman,
• smoking and drug addiction,
• severe stress,
• viral and bacterial infections in women,
• severe concomitant pathological processes,
• the use of certain medications - psychotropic and anticonvulsants,
• radiation exposure.

Symptoms

The syndrome is characterized by polymorphic clinical manifestations. Patients with TCS can be recognized immediately. Such children have a characteristic appearance and often look alike.

Clinical signs of the syndrome:

1. violation of the normal shape of the palpebral fissure, wide eye shape and drooping of their outer edge, anti-Mongoloid eyes;
2. hypoplasia of the zygomatic bones and brow ridges;
3. facial asymmetry;
4. disproportionately large nose;
5. face pressed inward;
6. small chin,
7. non-fusion of the hard palate;
8. cleft lip;
9. hair growth on the cheeks;
10. damage to the hearing organ - underdevelopment of the auditory ossicles, tympanic cavity and auricle; atresia of the auditory canal; hearing loss; pretragal fistulas;
11. damage to the oral cavity - “Gothic” palate; pharyngeal hypoplasia - narrowing of the pharynx and airways; “open”, malocclusion; restriction of the ability to open the mouth of varying severity; lack of teeth; displacement of the tongue backwards with obstruction of the respiratory and digestive tracts; defect of soft tissues of the oral cavity;
12. damage to the organ of vision - coloboma of the lower eyelid, absence of eyelashes; strabismus, decreased visual acuity;
13. deformed thumbs.

Deformation of the face and skull can be combined with malformations of internal organs: the heart, spine, auditory analyzer, exocrine and internal secretion glands, and respiratory tract. In sick children, adaptation to society is disrupted. They are shy around others and avoid contact with them. This leads to the formation of an inferiority complex and the development of depression. At the same time, intelligence is completely preserved: patients adequately perceive information and develop correctly morally and physically.

Clinical signs of the syndrome have varying degrees of severity: from subtle deformations to severe deformities in which facial features are completely erased. In advanced cases, patients have problems with chewing and swallowing, pronunciation of individual sounds, vision and hearing.

Stages

The stages of the syndrome are determined by the complexity of the mutation process and the intensity of clinical signs:

Severe TCS

• The initial stage is characterized by almost imperceptible changes on the face. Sick children are no different from healthy ones and lead a normal life.
• The middle stage is manifested by all of the above disorders. The abnormal deformation of the facial bones is quite severe. There may be difficulties with breathing, eating, hearing loss, and dental problems.
• The severe stage is the complete absence of the face, the inability to examine its features. Even plastic surgery cannot help patients.

Complications

Severe complications and unpleasant consequences of Treacher Collins syndrome:

1. hearing loss and complete deafness,
2. inability to eat,
3. suffocation,
4. complete absence of teeth,
5. abnormal formation of eyeballs,
6. swallowing disorder
7. abnormal development of teeth, problems with chewing and sound pronunciation,
8. nasal voice,
9. damage to the nervous system and mental disorders due to a feeling of inferiority,
10. congenital heart defects and internal organs.

Diagnostics

The diagnosis and treatment of Treacher Collins syndrome is carried out by pediatricians, plastic surgeons, ENT doctors and geneticists. Diagnostic measures are divided into pre- and postnatal.

• Prenatal detection of pathology is carried out during an ultrasound examination of a pregnant woman. Additionally, chorionic biopsy, amniocentesis and amniotic fluid analysis, blood testing from the fetal vessels of the placenta, and fetoscopy are performed.
• Postnatal diagnosis is based on characteristic clinical signs and external data of the patient. If the symptoms of the syndrome are mild, problems arise with making a diagnosis. Specialists should pay special attention to the respiratory function and oxygen saturation of hemoglobin, and also evaluate the effectiveness of feeding a sick child.

During a molecular genetic study, a defect is found in chromosome 5 and a mutation of the gene responsible for the disease is discovered. Taking into account hereditary predisposition and clinical picture, a diagnosis of pathology is made. Genetic counseling is complicated by variable disease expression.

Additional diagnostic methods:

1. assessment of the child’s hearing - recording of auditory potentials, audiometry, audiological testing, tomography of the temporal bones;
2. respiratory assessment is associated with risk of sleep apnea;
3. fluoroscopic or tomographic examination of the head;
4. pantomography;
5. CT and MRI of the brain.

Therapeutic measures

Treacher Collins syndrome is an incurable disease in which it is impossible to eliminate the root cause of deformities of the skull and face. Patients are indicated for palliative care to improve the quality of life of patients. If the syndrome was diagnosed during fetal development, pregnant women are advised to have an abortion. When a sick child is born, he requires qualified complex therapy. Patients undergo surgical and orthodontic treatment to improve their appearance and quality of life.

• Surgical intervention is carried out with the aim of correcting external defects for a comfortable stay of patients in society. The surgery also prevents death from mutations that make breathing and swallowing difficult. Surgery should be performed as early as possible, especially in severe cases where there is narrowing of the airways. Patients undergo tracheostomy and gastrostomy for feeding. Then they move on to surgical correction of the palate, lengthening of the lower jaw, endoscopic polysinsotomy, reconstruction of soft tissues - plastic surgery of the auricles, correction of coloboma, supraglottoplasty. These operations are very labor-intensive and costly. Limited mouth opening is very difficult to correct. An ENT surgery specialist is required to treat pathologies of the middle and outer ear.
• Hearing aids are used to improve hearing. Hearing prosthetics are especially necessary in cases where operations on altered auditory ossicles give poor results. To ensure that a sick child does not lag behind his peers in mental development in the future, a hearing aid should be worn from 3 months to 3 years. Subsequently, a magnetic implant is installed in the area behind the ear.
• Dental procedures are performed by dentists to correct malocclusions and restore teeth.
• To improve speech, speech therapy and audiology classes are conducted, and psychotherapy sessions are conducted to adapt to society.
• People who have problems swallowing food or drinks need help from speech pathologists.

Craniofacial defects in Treacher Collins syndrome cannot be completely eliminated. Treatment of the pathology is long-term, especially if there are severe disorders. Patients will require a whole series of plastic surgeries. The entire treatment cycle can take several years. If surgeons fail to eliminate all deformities, patients live with them all their lives.

TCS is a congenital disorder of craniofacial development with characteristic bilateral symmetrical ear-mandibular dysplasia without limb anomalies. This hereditary disease is extremely rare in modern medical practice.

Prevention and prognosis

The prognosis for STS is favorable if it does not pose a threat to the child’s life. Timely correction of hearing impairments and surgical correction of external defects make it easy to cope with social adaptation and ensure normal intellectual development of children. They live no different from their peers and create full-fledged families. Some patients require the help of psychologists because they see their ugliness and suffer from it. Those who cannot come to terms with such an illness become depressed and try to avoid all communication with other people.

TTS is a lifelong diagnosis. The disease is quite severe and requires highly qualified care. Since it is caused by a genetic mutation, it is impossible to prevent the development of the syndrome. Medical genetic counseling is required for couples with a negative family history. If this disease has not been documented in close and distant relatives, it is necessary to follow standard recommendations regarding a healthy lifestyle during pregnancy.

Video: about the most famous person with Treacher-Collins syndrome

Often, facial deformities in children are caused by genetic pathology. Among these is Treacher-Collins syndrome. The disease is accompanied by deformation of the bones of the skull and facial region. In the absence of medical care, the disease progresses rapidly.

Treacher-Collins syndrome - what is it?

When talking about Treacher-Collins syndrome and what kind of pathology it is, doctors often use another name - Franceschetti syndrome. This pathology usually refers to a complex of disorders affecting the deformation of the bones of the skull. The disease takes a long time, so it is customary to distinguish stages during the course of the disease. According to its frequency of occurrence, the syndrome is classified as a rare genetic pathology: the disease is registered with a frequency of 1 case per 10,000 infants and is hereditary.

Treacher-Collins syndrome - causes

At the beginning of the 20th century, Treacher-Collins syndrome was first described: the causes of the disease could not be reliably established. In the course of long-term research, scientists have found that pathology develops as a result of changes in DNA structure. Mutations develop on chromosome 5. It is one of the longest nucleotide structures in the human genome and is responsible for the correct formation of the skeleton in the embryo.

The provoking factor causing Treacher-Collins syndrome (photo shown below) is a failure of intracellular protein synthesis. As a result, haploinsufficiency syndrome develops - a lack of protein necessary for the normal development of the facial part of the skull. It is worth noting that pathology can be both hereditary and acquired.

Maxillofacial dysostosis - type of inheritance

Genetics, describing maxillofacial dysostosis, the type of inheritance of the disease, indicate autosomal dominant. This means that pathology develops if one of the parents has a mutant gene. In this case, the mutations affect the TCOF1 or POLR1D genes. However, according to the observations of specialists, Treacher-Collins syndrome also develops when the patient’s own genes are mutated.

The presence of a mutation in the POLR1C gene confirms this fact. In rare cases, Treacher-Collins disease is transmitted through an autosomal recessive pattern of inheritance, when a child receives a mutated gene from both parents. In this case, the pathology in mom or dad may practically not manifest itself or have barely noticeable symptoms.

Maxillofacial dysostosis - symptoms

Maxillofacial dysostosis can be detected already during the first examination of the patient:

1. Such children have severe underdevelopment of the zygomatic bones and jaw.
2. The auricles are not fully formed: the child’s ears are small in size, and the auditory canal is underdeveloped.
3. The eye shape narrows noticeably.
4. The type and severity of the disorder may vary, but there is always a malfunction in the functioning of the hearing aid and respiratory system.

The most striking symptom accompanying Treacher-Collins disease is a change in the normal shape of the eyes. The palpebral fissure narrows, causing the eyeballs to droop. Other manifestations of Treacher-Collins syndrome are also possible:

• defect of soft tissue of the oral cavity;
• sunken chin;
• malocclusion;
• change in bite.

Treacher-Collins syndrome - degrees

As noted above, pathology develops gradually, progressing over time. Initially, Treacher-Collins syndrome is characterized by slight hypoplasia of the facial bones. A decrease in the size of the cheekbones is diagnosed, which is why the face looks slightly elongated. This change is called the first degree of the disease.

Maxillofacial dysostosis or Treacher-Collins syndrome of the second degree is accompanied by underdevelopment of the auditory canals. The lower jaw is much smaller, the palpebral fissure narrows, which leads to impaired vision. In severe forms, the face is practically absent. The nose, cheekbones, upper and lower jaws are so deformed that the patient becomes unrecognizable to others.

Treacher-Collins syndrome - treatment

There is no drug method to cure maxillofacial dysostosis: surgery is the only method of therapy. Surgical treatment is prescribed both for aesthetic purposes and to normalize the functioning of the jaw so that the patient can eat. If necessary, correction of the ears and plastic surgery of the external auditory canal are performed.

Due to the small size of the jaws and large tongue, it simply cannot fit in the mouth. In this case, the epiglottis is removed and a permanent tracheostomy is installed. The patient often requires several operations due to the complexity of the pathology. What Treacher-Collins syndrome looks like before and after surgery is shown in the photo.

Treacher-Collins syndrome - prognosis

Treacher-Collins syndrome is a difficult experience for patients. The prognosis depends entirely on the severity of the deformation of the facial bones and the number of concomitant clinical disorders. In most cases of pathology, the prognosis is favorable. But children with this disease often face difficulties in social adaptation, which negatively affects their overall well-being.

How do people with Treacher Collins syndrome live?

Children with Treacher-Collins syndrome do not have mental developmental disabilities, so they go through the same developmental stages as their peers. However, hearing problems often affect hearing loss, and changes in appearance often cause the development of mental disorders. This requires working with a psychologist.

30-year-old Briton Jono Lancaster has lived with the rare condition Treacher Collins syndrome all his life, but he recently proved that it's never too late to find friends with the same problem.

Treacher Collins syndrome, or maxillofacial dysostosis, is a genetic disease that is autosomal dominant in inheritance and is characterized by deformation of the face and skull. This disease was first noticed by ophthalmologist Edward Collins. This event took place in 1900.

Signs and symptoms of this disease can vary greatly from person to person, ranging from subtle signs to severe damage. Most patients with this diagnosis have underdeveloped facial bones, especially cheekbones, and a reduced jaw and chin. Sometimes Treacher Collins syndrome accompanies a condition such as cleft palate. In the most severe cases, underdevelopment of bones can lead to the fact that a person simply cannot breathe normally, which is very dangerous for a person’s life.

What mutations lead to the development of Treacher Collins syndrome?

The most common mutations in Treacher Collins syndrome occur in the TCOF1, POLR1C, and POLR1D genes. Moreover, changes in the TCOF1 gene are detected in 93% of all cases of this diagnosis. Mutations in the POLR1C and POLR1D genes are detected quite rarely. This is what causes the development of Treacher Collins syndrome. If there are no violations in these genes, but the disease is present, then its cause can be considered unknown.

It is known that these three genes - TCOF1, POLR1C, and POLR1D - play an important role in the formation of bones and other tissues of the facial part of the skull. They are actively involved in the production of molecules called ribosomal RNA, which is the “sister” of DNA.

Changes in the above genes reduce the total number of molecules produced. It is believed that this leads to the self-destruction of some cells that are responsible for the development of tissues of the face and skull. All this, even during the formation of the fetus, leads to the fact that there are some problems in the formation of the face, which can be either barely noticeable or very pronounced.

Video: Treacher Collins Syndrome

How is the disease inherited?

This disease has autosomal dominant inheritance. Moreover, it will manifest itself in a child if one of the parents has the mutant gene. Most often, mutations in the TCOF1 or POLR1D genes are inherited this way. However, most often, and this is approximately 60% of all cases, the disease is not hereditary in nature, but manifests itself in the child due to a new mutation of only his genes.

If a mutation occurs in the POLR1C gene, then this indicates autosomal recessive inheritance, that is, the child receives the mutant gene from both parents. However, in the parents themselves, the disease most often does not manifest itself at all, or is only mildly expressed. You can see what children with Treacher Collins syndrome look like in photos on the Internet.

Symptoms

This unusual disease has many different manifestations. Moreover, one person with this diagnosis may not have all possible defects. And since this disease is congenital, the first signs of the disease can be observed immediately after the birth of the child.

The main manifestations of the disease are numerous facial deformities. In this case, incorrect formation of the palpebral fissure is most often observed. In this case, the outer corner of the eye is always directed not upward, as is usually the case, but downward. This phenomenon is observed on both sides. The eyelids have the shape of a triangle, which is called coloboma.

The second important diagnostic sign is underdevelopment of the zygomatic bone. The cheek bones are very small, which in turn leads to incorrect facial symmetry. The lower jaw is also somewhat underdeveloped and is usually very small. In this case, a large mouth is observed.

Underdevelopment also affects teeth. In some cases, they may be completely absent throughout life, but most often the teeth are widely spaced from each other, which forms an incorrect bite.

The third important sign is either the complete absence or underdevelopment of the ears and ear canal. Because of this, children cannot have normal hearing.

This disease has several stages in its development. At the initial stage, changes on the face are practically not noticeable. With moderate severity, which is detected most often, the above violations are noted. In severe cases, it is almost impossible to see the child’s facial features.

Video: Girl without a face. The Juliana Wetmore Story

Treatment

Since this disease is genetic in nature, there is simply no treatment for it. However, in case of severe facial malformations, it is possible to perform an operation that will help eliminate the existing defects.

If necessary, correction of the auricles, cleft palate and plastic surgery of the external auditory canal is performed. Since in this disease the jaws are very small and the tongue is large, it simply cannot fit in the mouth. To overcome this pathology, an operation is performed to remove the epiglottis and install a permanent tracheostomy.

It is simply impossible to cure this serious deficiency in one operation, especially if the disorders are severe. Therefore, several plastic surgeries are required, and the treatment cycle itself can last for several years. However, sometimes it is not possible to remove all defects, and a person has to put up with this all his life.

30-year-old Brit Jono Lancaster has lived with the rare Treacher Collins syndrome all his life, but he recently proved it's never too late to find friends with the same problem.

Treacher Collins syndrome is a disease that negatively affects bone development and is characterized by craniofacial deformity. The chances of developing Treacher Collins syndrome are 1 in 50,000.

Jono Lancaster lives with Treacher Collins syndrome

Lancaster recently learned about Zackery Wilson, a 2-year-old with the same condition, and decided to meet him. To do this, he had to overcome a long journey from Britain to Australia. Zachery's mother was very happy with this decision, as she wanted her son to meet someone who successfully lives with such a disease.

For Jono, this meeting was also a wonderful event, since as a child he really missed a role model who would be sick like him, but, nevertheless, would have a good job and a girlfriend. Someone had to show him that all this was available to him and Treacher Collins syndrome was not a barrier to this.

Jono and Zakeri first met on November 17, 2014 and have already become true friends. Lancaster plans to stay in touch with the boy and support him in every possible way. Let's hope everything goes well for both of them.

Zackery Wilson isn't the only child Lancaster helps. The man is a patron of the charity Life For a Kid, which tries to make the lives of children in need better.

It’s simply incredible how this person, who, it would seem, could use some support himself, manages to help those around him. Despite the rare disease, Jono Lancaster does not feel left out. He tries to live a full life and enjoy every moment. This man can serve as an example for many.

Video: Jono Lancaster and Treacher Collins Syndrome

Treacher Collins syndrome, maxillofacial dysostosis) is an autosomal dominant disease characterized by craniofacial deformity. Described by the English ophthalmologist Edward Treacher Collins in 1900.

Treacher Collins syndrome occurs in 1 in 50,000 infants. Typical clinical signs: strabismus, colobomas of the eyelids, the size of the mouth, chin and ears is significantly less than normal. In some cases - hearing loss.

The cause of the disease is, most often, a nonsense mutation (the appearance of a stop codon) in the TCOF1 gene, leading to haploinsufficiency. The syndrome is inherited in an autosomal dominant manner and is characterized by high penetrance. Expressiveness may vary. There are varying degrees of this disease - from almost imperceptible symptoms to extremely severe forms. Most patients have underdeveloped facial bones, resulting in a sunken face, a large nose, and very small jaws and chins (micrognathia). Some patients have a cleft palate. In severe cases, micrognathia can displace the tongue of affected newborns enough to cause oropharyngeal obstruction and potentially life-threatening airway disease. It is necessary that the epiglottis be surgically removed to relieve airway obstruction. Congenital heart disease is an uncommon feature

Juliana "the girl without a face": a victim of Treacher Collins syndrome

In 2003, an unusual girl was born - Juliana. She was missing 30-40% of her facial bones: the upper jaw, zygomatic arches, some bones of the orbit, and the external auditory canal was deformed. Doctors believe this is the most severe case of the rare disease Treacher Collins syndrome. Now Juliana is almost seven years old, she has undergone dozens of plastic surgeries, and she is gradually gaining her face. She is learning to speak and will soon go to school.

Treacher Collins syndrome is a genetic congenital disorder that occurs in one in 10,000 children. The patient's face and skull are deformed: underdeveloped facial bones, a large nose and very small jaws and chin. Some patients have a cleft palate and strabismus. True, children have fully preserved intelligence and only hearing impairment can delay development. Fortunately, not all people have such a serious form of the disease and sometimes its symptoms are almost invisible. In case of severe damage, surgery must be performed to prevent the child from suffocating.

Juliana is the worst case of this disease. She lives in a small town in Florida with a close-knit family. Her mother realized that the child would not be born completely healthy even during the first ultrasound examination, but did not imagine that the child would have such terrible abnormalities. The shocked father, seeing the child for the first time, realized that the girl was a fighter and was not going to give up, even though the doctors said that she would not survive. She could not eat with her mouth, but breathed through her trachea.

Now Juliana’s mother spends all her days caring for her sick child, whom journalists called “the girl without a face.” With all this, Juliana has normal intelligence, knows how to be happy and sad. She loves to play with her sister and adores her mom and dad.