Treacher-collins syndrome

Familial testing for Treacher Collins syndrome (TCS) depends on the pattern of inheritance in the family. About 60% of those with TCS are the first in their family to have this condition due to a new/sporadic (de novo) genetic change. In this case, the chance for the parents or siblings of the person with TCS to have a mutation would be low. Of note, a parent who has subtle facial features of TCS may not have been diagnosed previous to having a child with more significant features of TCS. Therefore, parents who have a child with TCS may consider genetic testing to determine the chance of having more children with TCS (recurrence risk).

The recurrence in a child with a parent who has TCS due to mutations in TCOF1 or POLR1D gene would be 1 in 2 or 50% regardless of the gender of the child.

In some families, TCS is inherited in an autosomal recessive pattern due to mutations in POLR1C. A person with a genetic change in both copies of their POLR1C gene with have TCS. Each parent passes on one genetic change in this gene and is a carrier of TCS. Carriers of a condition usually don’t have medical problems, but if they have children with another carrier of a change in the POLR1C gene, they have a 1 in 4 or 25% chance of having a child with the condition.

Usually it is best to test an individual with TCS first to determine which gene change they have. If the genetic change is found, then it is simple to look directly for that particular change in any one else in the family who is tested.

To learn more about genetic testing for Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

Individuals with TCS report experiencing undesirable attention and sometimes rejection, due to their facial appearance. These experiences have been associated with problems like depression, anxiety, psychological distress and lower quality of life. Studies have shown that children and adolescents reported improved self image and improved social acceptance after facial reconstructive surgery. Children may also benefit from working with a trained psychologist.

Psychologists are typically part of the multi-disciplinary craniofacial team. A craniofacial team in your area can be found by talking to doctors about who which specialists they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

Treacher Collins syndrome (TCS) is a genetic condition that mainly affects the structure of the face. The characteristic facial appearance may include downward slanting eyes, "notching" of the lower eyelids (coloboma), underdeveloped cheek bones, small lower jaw (micrognathia), and small, missing, or unusually formed ears. Other features can include vision problems, hearing loss, sparse or missing lower eyelashes, cleft palate (opening in the roof of the mouth) and narrowing of the nose (choanal stenosis/atresia). The facial features are usually symmetric (the same on both sides of the face) and present at birth. People with TCS usually have normal intelligence.

The severity of the facial features can vary significantly from person to person, even when two people in the same family have TCS. Some individuals have such mild features of TCS that they may go undiagnosed. Others may have more significant facial involvement. The complications that can result from these facial differences are also highly variable and can affect an individual’s ability to hear, breath, and eat. There can be life-threatening complications with breathing in infancy.

Treacher Collins syndrome can occur for the first time in a family as a new genetic change in a person (de novo mutation), or can be inherited in families. Because some people with TCS have such mild features of TCS, the best person to help you understand whether it might be new to your family or inherited in your family is a geneticist. For parents in which neither the mother or father has TCS, the chance of having another child with TCS is very small. An adult with TCS has a 50% chance of passing on TCS to his or her children.

The best person to diagnose TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

The usual abbreviation for Treacher Collins syndrome is TCS. You might also be able to find information about Treacher Collins syndrome using one of it’s alternate names and corresponding abbreviations. For example, TCS is sometimes called mandibulofacial dysostosis which is abbreviated MFD or MFD1.

The life expectancy in those with Treacher Collins syndrome (TCS) is not shortened compared to the general population as long as breathing problems in infancy are managed well.

To learn more about management for breathing issues related to Treacher Collins syndrome, consult a team of doctors in a craniofacial clinic. A craniofacial team in your area can be found by talking to doctors about who which specialists they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

There are three genes currently associated with Treacher Collins syndrome: TCOF1, POLR1D and POLR1C. TCOF1 provides instructions to make a protein called treacle. POLR1D and POLR1C make a part of two enzymes called RNA polymerase I and RNA polymerase III.

The proteins made from these three genes are involved in producing ribosomal RNA, a molecule in our cells that is related to DNA. The ribosomal RNA helps a cell build proteins from their building blocks, amino acids. Changes in these genes reduce the amount of ribosomal RNA that is made. Researchers do not yet know why this particularly influences the growth of the facial bones.

To learn more about the genes that cause Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors site under "Find a Counselor".

Individuals with Treacher Collins syndrome (TCS) may have differences of the skull and face that may affect their ability to hear, breathe, and eat. Some individuals with may have vision issues. Some may have hearing loss or a cleft palate (opening in the roof of the mouth), both of which can lead to speech difficulties. Bone and dental problems as well as psychological issues due to appearance may be present. Since the features of this disorder are highly variable, some people with TCS may have very mild or no medical needs related to the condition. Intelligence is typically normal.

After the initial diagnosis of TCS has been made, the following evaluations are recommended to determine the extent to which an individual is affected and what treatments may be needed.
1. Evaluate the narrowness of the airways that may cause difficulty breathing;
2. Assess the palate (roof of the mouth) for a cleft (opening);
3. Evaluate how well the person can swallow;
4. Formal hearing examination;
5. Eye exam;
6. Dental exam when teeth have come up.

Particular attention should be paid to breathing difficulties in infancy because they can be life-threatening if not treated properly. Special positioning of the infant to help keep the airway open may be used. Some children with severe breathing difficulty may require intubation (a breathing tube inserted). Sometimes surgery may be required to open the breathing passages. A feeding tube is sometimes needed to make sure enough calories are taken in while protecting the airway because severe breathing problems require a lot of energy and a person cannot breath and eat at the same time. An evaluation for sleep apnea (where an individual stops breathing while sleeping) should also be performed.

Education and psychological issues should also be considered especially as the child child gets older. Accommodations for sight or hearing issues might need to be made in the classroom. Additionally, if cleft palate or hearing loss are present, speech delay can be concern. Psychological issues regarding appearance and integration into school should be discussed.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or the specialists with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

Most cases (71%-93%) of Treacher Collins syndrome are caused by changes (mutations) in the TCOF1 gene. This gene is located on the long arm of chromosome 5 (5q32-q33) and makes a protein called treacle. POLR1D and POLR1C are two genes that cause a smaller number of cases (about 2%) of Treacher Collins syndrome. Sometimes people with TCS do not have changes in any of these genes, therefore, there are likely more genes that cause TCS that have not been discovered yet.
To learn more about the genes that cause Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors site under "Find a Counselor".

The main gene that causes Treacher Collins syndrome (TCS) has been found to have many different changes that cause TCS. Most families have a different change than any of the other families who have TCS.

A "variant" is another word for a change in a gene. Variants can be benign (not disease causing), pathogenic (disease causing), or of unknown clinical significance (undetermined). Looking at a person’s genetic testing report can be helpful to know what type of variant or genetic change was identified.

If a variant has not been seen in another family previously, and they are not sure how the change affects the protein that is supposed to be built from the gene code, the variant may be called a "variant of unknown significance". This means there is a change, but they do not know if it causes TCS.

With additional information from research and more people getting genetic testing, variants may be become reclassified as disease causing or as benign. In some cases, testing other people in the family may provide additional evidence about whether a variant could potentially cause TCS. A person with a variant should periodically check with their doctor to determine if the interpretation of a variant has changed.

A genetic counselor or geneticist can help to interpret gene testing results. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

Children and adults with Treacher Collins syndrome (TCS) may be seen by a craniofacial clinic for treatment and management. The medical team may include ear, nose and throat specialists (pediatric otolaryngologists), plastic surgeons, dentists, speech pathologists, hearing specialists (audiologists), eye doctors (ophthalmologists), psychologists and geneticists.

Due to the variability in the signs and symptoms of Treacher Collins syndrome (TCS), treatment is individualized. Some people with TCS may have few or no medical needs and, therefore, may not require treatment for the condition.

A craniofacial team in your area can be found by talking to doctors about who they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

Treacher Collins syndrome (TCS) is a genetic condition that affects the structures of the face. The symptoms are variable and can include:
• Underdeveloped cheekbones
• Droopy or down-slanting eyes with notched lower lids
• Absence of the lower eyelashes
• Low-set, unusually shaped, small or absent ears
• Small jawbone
• Hearing loss caused by differences in the shape of ears and ear canal
• Cleft palate (opening in the roof of the mouth)
• Vision issues

These features may cause breathing problems, feeding issues, hearing/ speech difficulties and vision issues. Intelligence is usually normal.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

While there is no cure for Treacher Collins syndrome (TCS); early detection, treatment and surgical management may help prevent or reduce the health issues that people with TCS may experience. Individuals with TCS may have differences of the skull and face that affects their ability to hear, breathe, and eat. Bone and dental problems as well as psychological issues dealing with appearance may be present. The treatment is tailored to the specific needs of each individual. Some people with TCS may have few or no medical needs and may not need treatment.

Treatment is often managed by a multi-disciplinary craniofacial team that usually includes specialists in genetics, audiology (hearing), plastic surgery, oral surgery, otolaryngology (ear, nose and throat), dentistry, orthodontics, speech pathology and psychology.

After the initial diagnosis of TCS has been made, the following evaluations are recommended to determine the extent to which an individual is affected and what treatments may be necessary.
1. Evaluate the narrowness of the airways that may cause difficulty breathing;
2. Assess the palate (roof of the mouth) for a cleft (opening);
3. Evaluate how well the person can swallow;
4. Formal hearing examination;
5. Eye exam;
6. Dental exam when teeth have come up.

From birth to two years of age, the main management issues are airway management and feeding difficulties. Special positioning of the infant to help keep the airway open may be used. Some children with severe breathing difficulty may require intubation (a breathing tube inserted). Sometimes surgery may be required to open the breathing passages. A feeding tube is sometimes needed to make sure enough calories are taken in while protecting the airway because severe breathing problems require a lot of energy and a person cannot breath and eat at the same time.

Other treatments can include surgery to repair cleft palate as well as bone reconstruction of the facial structures. These surgeries are performed in steps. The timing, as well as the number of surgeries and their extent, depends on the severity of the involvement of the facial and jaw bones.

Individuals with hearing impairment may require a hearing aid, speech therapy and educational intervention. There are specialized hearing aids that can be worn by individuals who have ears that will not fit traditional hearing aids.

After six years of age reconstruction of the outer (external) ear could be done and should be performed before reconstruction of the external auditory canal (ear canal/tube) or middle ear. Reconstruction of the ear canal or middle ear can be performed in individuals with underdeveloped outer ear structures (microtia) and/or narrow ear canals.

Some individuals may need dental surgery.

Vision testing and treatment for the eyelid notching (coloboma) with botulinum toxin or surgery may also be necessary.

A craniofacial team is helpful for comprehensive management and can sometimes help reduce the number of surgeries needed by coordinating to perform multiple procedures at the same time. A craniofacial team in your area can be found by talking to doctors about who which specialists they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

The symptoms of Treacher Collins syndrome (TCS) may be so mild in some people that they are not diagnosed with TCS. Sometimes parents are not diagnosed until they have a child who has more apparent features of the condition. This shows that even within the same family there can be a wide range of the symptoms present and in the degree of facial involvement. Some individuals may appear to have very subtle facial differences and no medical problems related to TCS. Some may have mild or very few medical needs.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

The exact number of people who have Treacher Collins syndrome is not known because some individuals may have very mild symptoms and may be undiagnosed. The estimated prevalence is between 1:10,000 and 1: 50,000.

About 60% of those with Treacher Collins syndrome (TCS) are the first in their family to have this condition due to a new/sporadic (de novo) genetic change. If it is new to the family and the parents are not affected the chance for them to have another child with TCS is small. However, parents should be thoroughly evaluated because some people have such mild features they are not diagnosed and in one of the genes that causes TCS parents may be unaffected carriers.

Most cases of TCS are caused by mutations or disease causing changes in the TCOF1 gene. Mutations in TCOF1 gene are inherited in an autosomal dominant manner. This means that if a parent has a mutation in this gene, they have a 1 in 2 or 50% chance to pass on this condition to each of their children, regardless of whether it is a boy or girl. This also means that there is a 50% chance that a parent with TCS would not pass this condition to their children. POLR1D and POLR1C are two genes that are implicated in a minority of cases of TCS. Like TCOF1, mutations in POLR1D gene are inherited in an autosomal dominant manner.

In some families, TCS is inherited in an autosomal recessive pattern due to mutations in POLR1C. A person with a genetic change in both copies of their POLR1C gene will have TCS. Each parent passes on one genetic change in this gene and is a carrier of TCS. Carriers of a condition usually don’t have medical problems, but if they have children with another carrier of a change in the POLR1C gene, they have a 1 in 4 or 25% chance of having a child with the condition.

To learn more about the geneics of Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

To donate towards clinical research in Treacher Collins syndrome (TCS), individuals may visit websites such as NORD (National Organization for Rare Disorders) http://rarediseases.org. Those interested in fundraising for a TCS support group should contact their support group of choice to learn more about how to organize/ participate in a fundraising event. A donation can also be made to a hospital or clinic that specializes in treating those with TCS.

Often a diagnosis of Treacher Collins syndrome (TCS) can be made based on the physical features of the individual. Individuals who want to be tested for TCS should schedule an appointment with a medical geneticist for an evaluation. If TCS is suspected based on the findings of the physical exam, the geneticist may order genetic testing to confirm the diagnosis. Genetic testing for TCS can be performed on blood, saliva or skin through an accredited laboratory.
To learn more about how to be tested for Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

To access current clinical research on Treacher Collins syndrome (TCS), patients and families may visit www. clinicaltrials.gov. Family support group websites such as http://www.facesofchildren.org may also provide information on available research studies. Patients may also learn about upcoming clinical trials from their health care providers who specialize in treating those with TCS.

Treatment is often managed by a multi-disciplinary craniofacial team that usually includes specialists in genetics, audiology (hearing loss), plastic surgery, oral surgery, otolaryngology (ear, nose and throat), orthodontics, speech pathology and psychology. A craniofacial team in your area can be found by talking to doctors about who they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

Treacher Collins syndrome (TCS) is a genetic condition that is highly variable even within a family. It has been suggested that the environmental factors and perhaps other genes could play a role in why some individuals have very mild features while some may have severe medical complications related to TCS. There is nothing specific that has been found to increase the severity.
However, many of the features of TCS benefit from early detection and treatment. For example, detection of hearing loss and treatment with hearing devices may help reduce the chance of speech delays.
To learn more about the detection and treatment of the complications that can be associated with TCS, contact a craniofacial team. You can find one by asking your doctor to recommend one in your area or by using the list provided by FACES: The National Craniofacial Association under "Medical Centers"

Typically, people with Treacher Colllins syndrome (TCS) have normal intellect. However, mild developmental delay has also been described in some people. Speech and language delays related to hearing loss or cleft palate may be present.

Speech pathologists are often part of the multidisciplinary craniofacial team that works with people who have Treacher Collins syndrome. A craniofacial team in your area can be found by talking to doctors about who which specialists they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

Other names for Treacher Collins syndrome include Franceschetti-Zwalen-Klein syndrome, mandibulofacial dysostosis (MFD), zygoauromandibular dysplasia, and Treacher Collins-Franceschetti syndrome. Franceschetti-Zwalen-Klein syndrome is more commonly used for this condition in Europe. To learn if there is another name a doctor might use for Treacher Collins syndrome, ask your doctor if they are using another term, or consult a reliable website such as Genetics Home Reference.

[link url="www.aboutfaceinternational.org ” target=”_blank”>AboutFace International
Children’s Craniofacial Association – ThinkGenetic Advocacy Partner
American Academy of Audiology
American Society for Deaf Children
AmeriFace
Atresia/Microtia Online E-mail Support Group
[link url=" http://www.cleftsmile.org” target=”_blank”>Cleft Lip and Palate Foundation of Smiles
Craniofacial Foundation of America
FACES: The National Craniofacial Association
Genetic and Rare Diseases (GARD) Information Center
Let Them Hear Foundation
Let’s Face It
NIH/National Institute on Deafness and Other Communication Disorders

The physical signs of Treacher Collins syndrome (TCS) are present at birth. Some individuals may have such mild symptoms that they may not be diagnosed with the condition. Those who have very mild features may be diagnosed after x-ray and a careful medical exam by a geneticist. Sometimes parents are diagnosed only after having a child with more recognizable features of TCS.
There are several different genes that cause TCS. Some might consider TCS inherited from a different gene to be a variant. However, each of the genes causes the same features of the condition.
The best person to diagnose and discuss the symptoms of TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

There are several different conditions that share features of Treacher Collins syndrome (TCS). In many of these conditions there are differences that may lead to one diagnosis being more likely than another.