Treacher Collins syndrome is a rare genetic disorder that affects the development of facial bones and tissues, resulting in distinctive facial features such as down-slanted eyes, a small jaw, and malformed ears. Common symptoms include vision, hearing, and breathing problems, as well as difficulties with feeding and speaking. The syndrome is caused by mutations in the TCOF1 gene, which produces a protein essential for craniofacial development.
Treatment for Treacher Collins syndrome typically involves a multidisciplinary approach, which may include reconstructive surgery to correct facial deformities, therapies to improve speech and eating, and regular medical follow-up to monitor potential hearing and respiratory complications. Psychological and emotional support are also essential to help patients and their families cope with the physical and emotional challenges associated with the syndrome.
What are the causes of Treacher Collins, a rare genetic disease that affects the face?
Treacher Collins Syndrome is a rare genetic condition that affects facial development, causing craniofacial anomalies. The causes of this disease are related to genetic mutations in the TCOF1 gene, which is responsible for the production of a protein essential for the proper development of facial bones.
These genetic mutations affect the formation of facial bones during pregnancy, resulting in distinctive features such as a small jaw, down-slanted eyes, malformed ears, and a high palate. Additionally, Treacher Collins syndrome can also affect other facial structures, such as facial muscles and cranial nerves.
It's important to emphasize that Treacher Collins Syndrome is not caused by environmental factors or lifestyle habits, but is exclusively genetic. Individuals affected by this condition inherit the genetic mutation from their parents, and it can occur sporadically in rare cases.
Early diagnosis of Treacher Collins Syndrome is essential for planning appropriate treatment and specialized medical follow-up. Treatment for the disease usually involves corrective surgery to improve the patient's respiratory, hearing, and aesthetic functions.
How many cases of Treacher Collins are diagnosed annually in Brazil?
Treacher Collins syndrome is a rare genetic condition that affects the development of facial bones and tissues, resulting in distinctive facial features. Common symptoms include craniofacial deformities such as a small, recessed jaw, down-slanted eyes, and malformed ears. This syndrome is caused by mutations in specific genes and can be diagnosed through genetic testing.
Regarding the incidence of the disease in Brazil, there is no exact number of cases diagnosed annually. However, it is estimated that Treacher Collins Syndrome affects approximately 1 in 50.000 people worldwide. In Brazil, the number of cases may vary, but it is still considered a rare condition.
Treatment for Treacher Collins Syndrome typically involves a multidisciplinary approach, including corrective surgeries to improve respiratory, auditory, and aesthetic functions. Additionally, speech therapy and psychological support are also important to support patients' development and quality of life.
Although there is no precise number of cases diagnosed annually in Brazil, the syndrome is treatable, and patients can live full lives with appropriate support. It is essential that awareness of this condition is raised and that patients receive the necessary support to deal with the challenges it presents.
In which year was Treacher Collins syndrome discovered?
Treacher Collins syndrome was discovered in 1949 by the British physician Edward Treacher Collins. This rare condition affects the development of facial bones and tissues, resulting in distinct facial features. Some of the most common symptoms include a small jaw, drooping eyes, deformed ears, and hearing problems.
The causes of Treacher Collins syndrome are related to genetic mutations in the TCOF1 gene, responsible for producing a protein essential for the development of facial bones. These mutations interfere with the formation of facial tissues, resulting in the characteristic symptoms of the syndrome.
Treatment for Treacher Collins syndrome involves a multidisciplinary approach, with surgical interventions to correct facial anomalies, speech therapy to improve communication, and regular medical follow-up to monitor the child's hearing and development.
Although there is no cure, with proper treatment and support from family and medical staff, people with Treacher Collins syndrome can lead full and satisfying lives. It is important to seek specialized medical advice for early diagnosis and appropriate management of this genetic condition.
What is August Pullman's condition in the extraordinary film?
August Pullman's condition in the film "Wonder" is Treacher Collins Syndrome, a rare genetic disorder that affects the development of the bones and tissues of the face. This syndrome is characterized by several symptoms, such as a small jaw, receding chin, malformed ears, and downward-slanting eyes. In addition, there may be hearing and breathing problems due to malformation of the airways.
The causes of Treacher Collins syndrome are related to genetic mutations that affect the formation of facial tissues during pregnancy . These mutations can be inherited or occur spontaneously. Diagnosis is usually made shortly after birth based on the baby's physical symptoms.
Treatment for Treacher Collins Syndrome involves a multidisciplinary approach, with a medical team specializing in plastic surgery, otolaryngology, speech therapy , and psychology. Reconstructive surgeries are often necessary to correct facial malformations and improve the patient's quality of life. In addition, speech and hearing therapies may be recommended to address any difficulties in these areas.
Early diagnosis and appropriate treatment are essential to improve the quality of life of patients affected by this syndrome.
Treacher Collins Syndrome: Symptoms, Causes, Treatments
Treacher Collins syndrome is a genetic disorder that affects the development of bone structure and other tissues in the facial area. More specifically, although those affected usually have a normal or expected intellectual level for their developmental stage, they present with a number of other abnormalities such as malformations of the auditory canals and ossicles, palpebral fissures, ocular colobomas, or cleft palate, among others.
Treacher Collins syndrome is a rare medical condition, so its incidence is estimated at approximately one case per approximately 40.000 births.
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 area 5q31.3.
As for diagnosis, it is generally made based on the signs and symptoms present in the affected individual, however, genetic studies are necessary to specify chromosomal abnormalities and, in addition, to exclude other pathologies.
Currently, there is no cure for Treacher Collins syndrome; specialist doctors generally focus on controlling specific symptoms in each individual. Therapeutic interventions can include a wide variety of specialists, as well as different intervention protocols, including pharmacological, surgical, etc.
Features of Treacher Collins syndrome
Treacher Collins syndrome is a disorder that affects craniofacial development. Specifically, the National Treacher Collins Syndrome Association defines this medical condition as: “A rare, disabling, and incurable congenital craniocerebral developmental disorder or malformation.”
This medical condition was initially reported in 1846 by Thompson and 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, notched lower eyelids 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, so that affected individuals present various problems, such as atypical facial features, deafness, eye changes, digestive problems or language changes.
Statistics
Treacher Collins syndrome is a rare disease in the general population. Statistical studies indicate that there is an approximate prevalence of 1 case per 10.000 to 50.000 people worldwide.
Furthermore, it is a congenital pathology, therefore, its clinical characteristics will be present from the moment of birth.
Regarding gender distribution, no recent data were found indicating a higher frequency in either gender. Furthermore, there is no distribution associated with specific geographic areas or ethnic groups.
On the other hand, this syndrome has a nature associated with de novo mutations and inheritance patterns, so if one of the parents suffers from Treacher Collins syndrome, they have a 50% chance of passing this medical condition on to their children.
In cases of parents with a child with Treacher Collins syndrome, the probability of having a child with this disease again is very low, when the etiological causes are not associated with heritability factors.
Characteristic signs and symptoms
There are different changes that can appear in children who suffer from this syndrome, however, they do not occur in all cases.
The genetic anomaly characteristic of Treacher Collins syndrome will cause a wide variety of signs and symptoms, and all of them will fundamentally affect the development of the craniofacial region.
Craniofacial features
- Face: Changes affecting facial configuration usually appear symmetrically and bilaterally, that is, on both sides of the face. Some of the most common abnormalities include the absence or partial development of cheekbones, incomplete development of the lower jaw bone structure, and the presence of an abnormally small jaw and/or chin.
- Palate: Cleft palate, mandibular malformations, backward displacement of the tongue, incomplete development and misalignment of teeth are typical changes of this syndrome.
- Eyes: Abnormal malformation or development of the tissues around the eyes, drooping of the eyelids, absence of very narrow eyelashes or tear ducts. Additionally, the development of clefts or flies in the iris tissue or the presence of abnormally small eyes is also likely.
- Airways: there are many abnormalities that affect the airways, the most common being partial development of the pharynx, narrowing or obstruction of the nostrils.
- Ears and ear canals: Malformation of the inner, middle, and outer auditory structures. Specifically, the ears may not develop or may develop partially, accompanied by significant narrowing of the external auditory canal.
- Abnormalities in the extremities: In a small percentage of cases, people with Treacher Collins syndrome may have hand abnormalities, specifically, the thumbs may be missing or incompletely developed.
In summary, the changes we can expect to appear in children suffering from Treacher Collins syndrome will affect the mouth, eyes, ears and breathing.
Neurological characteristics
The clinical course of this medical condition will lead to a specific neurological pattern, characterized by:
- Variable presence of microcephaly.
- Normal intellectual level
- Delay in the acquisition of psychomotor skills.
- Variable involvement of cognitive areas.
- Learning problems
In some cases, delays in the development of various areas or in the acquisition of skills are due to the presence of medical complications and/or physical abnormalities or malformations.
Secondary medical complications
Changes in facial, auditory, oral, or ocular structure will cause a number of significant medical complications, many of which are potentially serious for the affected person:
- Respiratory failure : the reduction in the respiratory system's ability to function is a life-threatening medical condition for the individual.
- Childhood apnea : this medical complication involves the presence of brief episodes of interruption of the respiratory process, mainly during sleep phases.
- Feeding problems : pharyngeal abnormalities and oral malformations severely hinder the affected person's ability to eat; in many cases, the use of compensatory measures will be essential.
- Loss of vision and hearing: As with previous medical complications, abnormal development of ocular and/or auditory structures will lead to variable impairment of both capabilities.
- Delay in language acquisition and production : mainly due to malformations that affect the sound apparatus.
Of these symptoms, both the presentation/absence and the severity can vary considerably between affected individuals, 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, severe abnormalities and medical complications may develop that jeopardize the individual's survival.
Causes
As we indicated previously, Treacher Collins syndrome has a genetic nature of the congenital type, therefore, affected people will present this medical condition from birth.
Specifically, most cases are associated with the presence of abnormalities on chromosome 5, in area 5q31.
Furthermore, different investigations throughout the history of this syndrome have indicated that it may be caused by specific mutations in the TCOF1, POLR1C or POLR1D genes.
Thus, the TCOF1 gene is the most common cause of this pathology, accounting for approximately 81–93% of all cases. On the other hand, the POLR1C and POLRD1 genes give rise to approximately 2% of the remaining cases.
This set of genes appears to play a significant role in the development of bone, muscle, and skin structure in the facial areas.
Although many cases of Treacher Collins syndrome are sporadic, this condition has a 50% heritability pattern from parents to children.
Discovery
The diagnosis of Treacher Collis syndrome is based on clinical and radiological findings and, in addition, several complementary genetic tests are used.
In the case of a clinical diagnosis, a detailed physical and neurological examination is performed to determine the cause. This process is typically based on the disease's diagnostic criteria.
One of the most commonly used tests in this evaluation phase is X-rays, which can provide us with information about the presence/absence of craniofacial malformations.
Although certain facial features are directly observable, X-rays provide precise and accurate information about the development of the jawbones, the development of the skull, or the development of additional malformations.
Furthermore, in cases where physical signs are still very subtle or where it is necessary to confirm the diagnosis, several genetic tests can be used to confirm the presence of mutations in the TCOF1, POLR1C and POLR1D genes.
Additionally, if there is a family history of Treacher Collins syndrome, prenatal diagnosis is possible. Through amniocentesis, we can examine the embryo's genetic material.
Treatment
Currently, there is no curative treatment for Treacher Collins syndrome, so experts focus on treating the most common signs and symptoms.
Therefore, after the initial confirmation of the pathology, it is essential that an assessment of possible medical complications is carried out:
- Area changes
- Serious changes in facial structure.
- Cracks in the mouth
- Swallowing disorders.
- Additive changes.
- Eye and visual problems
- Dental anomalies
Identifying all these anomalies is essential for designing an individualized treatment tailored to the needs of the affected person.
Therefore, to manage this individualized treatment, the presence of professionals from different areas is generally necessary, such as a pediatrician, plastic surgeon, dentist, audiologist, speech therapist, psychologist, etc.
Specifically, all medical complications are divided into several phases to address their medical therapeutic intervention:
- From 0 to 2 years : treatment of changes in the respiratory tract and resolution of eating problems
- From 3 to 12 years : treatment of language disorders and integration into the educational system
- From 13 to 18 years : use of surgery to correct craniofacial malformations.
In all these phases, the use of drugs and qiririjic reconstruction are the most common therapeutic techniques.
References
- ANSTC (2016). What is Treacher Collins? Obtained from the National Treacher Collins Syndrome Association.
- CCA (2010). Guide to understand the traitor-collins syndrome. Obtained from the Children's Craniofacial Association.
- Cobb, A., Green, B., Gill, D., Ayliffe, P., Lloyd, T., Bulstrode, N., & Dunaway, D. (2014). Surgical treatment of Treacher Collins syndrome. British Journal of Oral and Maxillofacial Surgery , 581-589.
- Home Genetics Reference. (2016). Treacher Collins syndrome. Retrieved from Genetics Home Reference.
- Huston Katsanis, S., & Wang Jabs, E. (2012). Treacher Collins Syndrome. GeneReviews .
- Mehrotra, D., Hassan, M., Pandey, R. and Kumar, S. (2011). Clinical spectrum of Treacher Collins syndrome. Journal of Oral Biology and Craniofacial Research , 36-40.
- Rodrigues, B., Oliveira Silva, J., Gualberto Guimarães, P., Formiga, M., & Pavan Viana, F. (2015). Evolution of a child with Treacher Collins syndrome undergoing physiotherapy treatment. Physioter Mov. 525-533.
- Rosa, F., Bebiano Coutinho, M., Pinto Ferreira, J. and Almeida Sousa, C. (2016). Ear malformations, hearing loss and auditory rehabilitation in children with Treacher Collins syndrome. Acta Otorhinolaryngol Esp. , 142-147.