Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentCoping
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Coping
Treacher Collins syndrome is a rare genetic condition that affects facial bone development, causing major facial deformities. Children with the syndrome can have a very unusual facial appearance. Also known asmandibulofacial dysostosis, Treacher Collins affects approximately one in 50,000 people worldwide.
Because it is so uncommon, Treacher Collins is not well known outside the medical community. A central character in a 2017 Hollywood movie,Wonder, was afflicted with Treacher Collins syndrome, which helped increase awareness and interest in the condition.
This article discusses Treacher Collins syndrome and its symptoms and causes.
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What Are the Symptoms of Treacher Collins Syndrome?
There can be some variability in the severity of Treacher Collins syndrome. The most prominent feature of the condition is its effect on facial appearance. The bone deformities can also cause impaired hearing, and facial bone malformations can result in vision deficiencies.The condition can also impact the sense of smell, and problems with airway structure may interfere with breathing.
The altered facial development of Treacher Collins syndrome is apparent at birth, and, in some instances, it can be recognized even before birth on a prenatal ultrasound.
Other symptoms, such as hearing, vision, and smell deficits, may be less noticeable during infancy. Breathing difficulties can begin during infancy or may develop later in life. Treacher Collins syndrome does not typically affect intelligence, but the severe facial deformities can interfere with normal socializing and peer interactions, which can affect school attendance.
The symptoms of Treacher Collins Syndrome include:
What Is the Main Cause of Treacher Collins Syndrome?
It is unclear why this deficiency in treacle protein specifically affects the bone structure of the face so severely.
Genetic Mutation
Several different genetic mutations can cause the treacle defect.A mutation is an error in a person’sDNAcode. In Treacher Collins, the mutation results in a problem with physical features.
The most common mutation associated with Treacher-Collins syndrome is a defect in the TCOF1 gene, located on chromosome 5 in the 5q32 region. At least 200 different defects have been known to occur on this chromosome.
Other genetic abnormalities can also cause Treacher Collins syndrome, although the TCOF1 abnormality is the most common.
The POLR1C gene, which is on chromosome 6 in the 6q21.2 region, and the POLR1D gene, which is on chromosome 13 in the 13q12.2 region, both code for molecules called polymerase that help in the production of ribosomes.Defects in either of thesegenescan cause Treacher Collins syndrome.
Inheritance Pattern
Fewer than half of children with Treacher Collins syndromeinherit it from their parents. It is a hereditary autosomal dominant condition, which means a person who inherits the genetic defect from one parent will develop the condition. Parents who have the condition will pass on the genetic defect to half of their children.
Every person has two chromosomes that code for treacle production, and if a person has only one defective chromosome, the body still produces some of the treacle product. However, this not is enough to support the normal formation of the bones and tissues of the face.
Understanding Genetic Problems
How Treacher Collins Is Diagnosed
X-rays are often needed to assess the exact structure of the bone deformities for surgical planning.
The condition is usually associated with genetic defects, and genetic testing of an affected child can confirm the diagnosis. Genetic testing of the parents can be helpful in assessing the risk that a couple may have more children with the disorder.
Specialized diagnostic tests are necessary to assess hearing and vision. Diagnosis of respiratory impairment may require a multidisciplinary approach, including:
There is no treatment to cure Treacher Collins syndrome, but surgery can repair many of the bone deformities. Supportive care for the treatment of hearing loss, visual defects, and impaired smell may improve your child’s symptoms.
Surgery
Children may need to have many surgeries, and the optional timing may require surgery to be spaced out over a period of several years.
Surgical planning is based on a number of factors, including:
Because the facial deformities of Treacher Collins syndrome can be quite extensive, surgical interventions generally do not result in a completely normal facial appearance.
Supportive Care
In most instances, hearing loss is treated with surgery, hearing aids, or rehabilitation. Vision may improve with surgical correction of anatomical structural abnormalities or with visual aids.
In some instances, respiratory support with a mechanical respiratory device may be necessary.
Coping With Treacher Collins Syndrome
There are many serious concerns that you may have if your child has Treacher Collins syndrome.
The social and psychological issues associated with such a severe facial deformity can be excruciatingly difficult throughout the lifetime of a person who is afflicted with the condition. It can be painful for parents, siblings, and other family members to watch. Psychological counseling, family counseling, and support groups may be helpful.
Strategies that may help in the school and work setting may involve sharing details about the condition with peers through a school assembly or a workshop. Suitable approaches for interacting with peers have to be based on your individual family’s circumstances, your child, and the receptiveness of your community.
Developing skills, such as music, art, academics, speech, theater, sports, or any other area of interest, can help build confidence, camaraderie, and acceptance.
Summary
Treacher Collins syndrome is a rare genetic condition that affects the way the face develops. People with Treacher Collins have an unusual appearance including a small jaw and chin, a thin face, and small, sunken cheekbones.
People with Treacher Collins may also have other symptoms like problems with hearing, vision, and sense of smell. Breathing difficulties may be present at birth or may develop later on.
Treacher Collins can affect a person’s social experiences and self-esteem. People with the condition and their families can benefit from support groups, counseling, and other services.
Surgical Repair of Cleft Lip and Palate
4 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Beaumont CA, Dunaway DJ, Padwa BL, Forrest C, Koudstaal MJ, Caron CJJM.Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.Int J Oral Maxillofac Surg. 2021;50(11):1471-1476. doi:10.1016/j.ijom.2021.03.001National Organization for Rare Disorders.Treacher Collins syndrome.Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.Treacher Collins syndrome: Genetics, clinical features and management.Genes (Basel). 2021;12(9):1392. doi:10.3390/genes12091392Cabanillas-Aquino AG, Rojas-Yauri MC, Atoche-Socola KJ, Arriola-Guillén LE.Assessment of craniofacial and dental characteristics in individuals with Treacher Collins syndrome. A review.J Stomatol Oral Maxillofac Surg. 2021;122(5):511-515. doi:10.1016/j.jormas.2020.10.011Additional ReadingLigh CA, Swanson J, Yu JW, Samra F, Bartlett SP, Taylor JA.A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.J Craniofac Surg. 2017 May;28(3):683-687. doi: 10.1097/SCS.0000000000003470.Speltz ML, Wallace ER, Collett BR, Heike CL, Luquetti DV, Werler MM.Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.Plast Reconstr Surg. 2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584.
4 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Beaumont CA, Dunaway DJ, Padwa BL, Forrest C, Koudstaal MJ, Caron CJJM.Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.Int J Oral Maxillofac Surg. 2021;50(11):1471-1476. doi:10.1016/j.ijom.2021.03.001National Organization for Rare Disorders.Treacher Collins syndrome.Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.Treacher Collins syndrome: Genetics, clinical features and management.Genes (Basel). 2021;12(9):1392. doi:10.3390/genes12091392Cabanillas-Aquino AG, Rojas-Yauri MC, Atoche-Socola KJ, Arriola-Guillén LE.Assessment of craniofacial and dental characteristics in individuals with Treacher Collins syndrome. A review.J Stomatol Oral Maxillofac Surg. 2021;122(5):511-515. doi:10.1016/j.jormas.2020.10.011Additional ReadingLigh CA, Swanson J, Yu JW, Samra F, Bartlett SP, Taylor JA.A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.J Craniofac Surg. 2017 May;28(3):683-687. doi: 10.1097/SCS.0000000000003470.Speltz ML, Wallace ER, Collett BR, Heike CL, Luquetti DV, Werler MM.Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.Plast Reconstr Surg. 2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Beaumont CA, Dunaway DJ, Padwa BL, Forrest C, Koudstaal MJ, Caron CJJM.Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.Int J Oral Maxillofac Surg. 2021;50(11):1471-1476. doi:10.1016/j.ijom.2021.03.001National Organization for Rare Disorders.Treacher Collins syndrome.Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.Treacher Collins syndrome: Genetics, clinical features and management.Genes (Basel). 2021;12(9):1392. doi:10.3390/genes12091392Cabanillas-Aquino AG, Rojas-Yauri MC, Atoche-Socola KJ, Arriola-Guillén LE.Assessment of craniofacial and dental characteristics in individuals with Treacher Collins syndrome. A review.J Stomatol Oral Maxillofac Surg. 2021;122(5):511-515. doi:10.1016/j.jormas.2020.10.011
Beaumont CA, Dunaway DJ, Padwa BL, Forrest C, Koudstaal MJ, Caron CJJM.Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.Int J Oral Maxillofac Surg. 2021;50(11):1471-1476. doi:10.1016/j.ijom.2021.03.001
National Organization for Rare Disorders.Treacher Collins syndrome.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.Treacher Collins syndrome: Genetics, clinical features and management.Genes (Basel). 2021;12(9):1392. doi:10.3390/genes12091392
Cabanillas-Aquino AG, Rojas-Yauri MC, Atoche-Socola KJ, Arriola-Guillén LE.Assessment of craniofacial and dental characteristics in individuals with Treacher Collins syndrome. A review.J Stomatol Oral Maxillofac Surg. 2021;122(5):511-515. doi:10.1016/j.jormas.2020.10.011
Ligh CA, Swanson J, Yu JW, Samra F, Bartlett SP, Taylor JA.A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.J Craniofac Surg. 2017 May;28(3):683-687. doi: 10.1097/SCS.0000000000003470.Speltz ML, Wallace ER, Collett BR, Heike CL, Luquetti DV, Werler MM.Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.Plast Reconstr Surg. 2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584.
Ligh CA, Swanson J, Yu JW, Samra F, Bartlett SP, Taylor JA.A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.J Craniofac Surg. 2017 May;28(3):683-687. doi: 10.1097/SCS.0000000000003470.
Speltz ML, Wallace ER, Collett BR, Heike CL, Luquetti DV, Werler MM.Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.Plast Reconstr Surg. 2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584.
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