Treacher Collins syndrome

Title

Other Names:

Treacher Collins-Franceschetti syndrome; Mandibulofacial dysostosis; TCOF; Treacher Collins-Franceschetti syndrome; Mandibulofacial dysostosis; TCOF; TCS; MFD1 See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Mouth Diseases; Musculoskeletal Diseases See More

Subtypes:

Treacher Collins syndrome 3

Summary Summary

Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss.^[1] TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes.^[2] When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner.^[2] However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent.^[1] When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner.^[2] In some cases, the genetic cause of the condition is unknown.^[1]

Last updated: 11/11/2015

Symptoms Symptoms

The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.^[3]

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some people have additional eye abnormalities that can lead to vision loss. The condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of affected people. People with Treacher Collins syndrome usually have normal intelligence.^[3]

You can read additional information about the features of Treacher Collins syndrome through MedlinePlus and GeneReviews.

Last updated: 11/11/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of bone mineral density		0004348
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Malar flattening	Zygomatic flattening	0000272
Micrognathia	Small lower jaw Small jaw Little lower jaw [ more ]	0000347
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Open bite	Absence of overlap of upper and lower teeth Open bite between upper and lower teeth [ more ]	0010807
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Short face	Decreased height of face Decreased length of face Vertical shortening of face [ more ]	0011219
Skeletal dysplasia		0002652
30%-79% of people have these symptoms
Absent eyelashes	Failure of development of eyelashes	0000561
Conductive hearing impairment	Conductive hearing loss Conductive deafness [ more ]	0000405
Eyelid coloboma	Cleft eyelid Notched eyelid [ more ]	0000625
Frontal bossing		0002007
Iris coloboma	Cat eye	0000612
Low anterior hairline	Low frontal hairline Low-set frontal hairline [ more ]	0000294
Microtia	Underdeveloped ears Small ears [ more ]	0008551
Narrow internal auditory canal		0011386
Reduced number of teeth	Decreased tooth count	0009804
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
5%-29% of people have these symptoms
Abnormality of dental enamel	Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]	0000682
Abnormality of dental morphology	Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ]	0006482
Abnormality of the adrenal glands	Adrenal abnormalities	0000834
Abnormality of the vertebral column	Abnormal spine Abnormal vertebral column Abnormality of the spine [ more ]	0000925
Blepharospasm	Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid [ more ]	0000643
Brachycephaly	Short and broad skull	0000248
Branchial fistula		0009795
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Choanal atresia	Obstruction of the rear opening of the nasal cavity Blockage of the rear opening of the nasal cavity [ more ]	0000453
Cleft palate	Cleft roof of mouth	0000175
Cleft upper lip	Harelip	0000204
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Dysphasia		0002357
Encephalocele		0002084
Facial cleft	Cleft of the face	0002006
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Global developmental delay		0001263
Glossoptosis	Retraction of the tongue	0000162
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of penis	Underdeveloped penis	0008736
Hypoplasia of the thymus	Small thymus	0000778
Microphthalmia	Abnormally small eyeball	0000568
Multiple enchondromatosis		0005701
Narrow mouth	Small mouth	0000160
Patent ductus arteriosus		0001643
Preauricular skin tag		0000384
Rectovaginal fistula	Abnormal connection between rectum and vagina	0000143
Respiratory insufficiency	Respiratory impairment	0002093
Scrotal hypoplasia	Smaller than typical growth of scrotum	0000046
Thyroid hypoplasia	Small thyroid gland	0005990
Tracheoesophageal fistula		0002575
Wide mouth	Broad mouth Large mouth [ more ]	0000154
1%-4% of people have these symptoms
Atresia of the external auditory canal	Absent ear canal	0000413
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Preauricular hair displacement	Hair growing down to cheek Projection of scalp hair onto lateral cheek [ more ]	0009554
Upper eyelid coloboma	Cleft upper eyelid Notched upper eyelid [ more ]	0000636
Percent of people who have these symptoms is not available through HPO
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Abnormal parotid gland morphology		0000197
Autosomal dominant inheritance		0000006
Bilateral microphthalmos	Abnormally small eyeball on both sides	0007633
Cleft soft palate		0000185
Hypoplasia of the pharynx		0009555
Lacrimal duct stenosis	Narrowing of the tear duct	0007678
Lower eyelid coloboma	Cleft lower eyelid Notched lower eyelid [ more ]	0000652
Ptosis	Drooping upper eyelid	0000508
Sparse lower eyelashes	Scanty lower eyelashes Thin lower eyelashes [ more ]	0007776
Visual loss	Loss of vision Vision loss [ more ]	0000572

Showing of 71 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown.

These genes appear to play important roles in the early development of bones and other tissues of the face. They are involved in making proteins that help make ribosomal RNA (rRNA). rRNA is a chemical needed to make new proteins that are necessary for normal function and survival of cells. Mutations in these genes can reduce the production of rRNA, which may cause cells involved in the development of facial bones and tissues to die early. This premature cell death may lead to the signs and symptoms of TCS. It is still unclear why the effects of these mutations are generally limited to facial development.^[1]

Last updated: 10/27/2014

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

There is currently no cure for Treacher Collins syndrome (TCS).^[4] Treatment is tailored to the specific needs of each affected person. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists.

Newborns may need special positioning or tracheostomy to manage the airway. Hearing loss may be treated with bone conduction amplification, speech therapy, and/or educational intervention.^[5]

In many cases, craniofacial reconstruction is needed. Surgery may be performed to repair cleft palate, to reconstruct the jaw, or to repair other bones in the skull. The specific surgical procedures used and the age when surgery is performed depends on the severity of the abnormalities, overall health and personal preference.^[4]

There are some possible treatments that are being investigated. Researchers are looking for ways to inhibit a protein called p53, which helps the body to kill off unwanted cells.^[4]^[5] In people with TCS, p53 is abnormally activated, leading to the loss of specific cells and ultimately causing features of TCS. It has been proposed that inhibiting the production of p53 (or blocking its activation) may help to treat affected people. However, more research is needed to determine if this type of treatment is effective and safe.^[4]

Researchers are also studying the use of stems cells found in fat tissue to be used alongside surgery in people with TCS and other craniofacial disorders. Early studies have shown that surgical outcomes may be improved using these stem cells to help stimulate the regrowth of affected areas. However, this therapy is still experimental and controversial.^[4]^[5]

Last updated: 11/11/2015

Management Guidelines

Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Prognosis Prognosis

Usually, people with Treacher Collins syndrome grow to become functioning adults with normal intelligence.^[6] With proper management, life expectancy is approximately the same as in the general population.^[5] In some cases, the prognosis depends on the specific symptoms and severity in the affected person. For example, very severe cases of TCS can cause perinatal death because of a compromised airway.^[7]

Last updated: 11/11/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Nager and Miller syndromes and Goldenhar syndrome (see these terms), in its bilateral and slightly asymmetrical form. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Treacher Collins syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

ACPA Family Services
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Telephone: +1-919-933-9044
Fax: +1-919-933-9604
E-mail: info@acpa-cpf.org
Website: https://cleftline.org/
American Society for Deaf Children (ASDC)
PO Box 23
Woodbine, MD 21797
Toll-free: 1-800-942-2732
E-mail: info@deafchildren.org
Website: http://deafchildren.org/
Ameriface
PO Box 751112
Las Vegas, NV 89136
Toll-free: 888-486-1209
Telephone: 702-769-9264
E-mail: info@ameriface.org
Website: http://www.ameriface.org
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
National Association of the Deaf
8630 Fenton Street Suite 820
Silver Spring, MD 20910
Telephone: +1-301-587-1788
TTY: +1-301-587-1789
Fax: +1-301-587-1791
E-mail: NADinfo@nad.org
Website: https://www.nad.org/
Treacher Collins Family Support Group
Website: http://www.treachercollins.net/
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: http://www.worldcf.org/

Organizations Providing General Support

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Treacher Collins syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Treacher Collins syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Treacher Collins syndrome. Genetics Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 10/27/2014.
Marie-Paule Vazquez. Treacher Collins syndrome. Orphanet. January, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861. Accessed 10/27/2014.
Treacher Collins syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 2/28/2011.
Treacher Collins Syndrome. NORD. May 24, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/647/viewAbstract. Accessed 10/27/2014.
Sara Huston Katsanis and Ethylin Wang Jabs. Treacher Collins Syndrome. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1532/. Accessed 10/27/2014.
Treacher-Collins syndrome. MedlinePlus. September 8, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm. Accessed 10/27/2014.
J Dixon, P Trainor and MJ Dixon. Treacher Collins syndrome. Orthodontics & Craniofacial Research. May, 2007; 10(2):88-95. Accessed 10/27/2014.