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Treacher Collins syndrome

Reviewed December 2006

What is Treacher Collins syndrome?

Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals 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.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This 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 cases. People with Treacher Collins syndrome usually have normal intelligence.

How common is Treacher Collins syndrome?

This condition affects an estimated 1 in 50,000 people.

What genes are related to Treacher Collins syndrome?

Mutations in the TCOF1 gene cause Treacher Collins syndrome.

The TCOF1 gene provides instructions for making a protein called treacle. Although researchers have not determined the precise function of this protein, they believe that it plays a critical role before birth in the development of bones and other tissues in the face. Mutations in the TCOF1 gene reduce the amount of treacle that is produced in cells. Researchers believe that a loss of this protein signals cells that are important for the development of facial bones to self-destruct (undergo apoptosis). This abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome.

How do people inherit Treacher Collins syndrome?

This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene. These cases occur in people with no history of the disorder in their family. In the remaining cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.

Where can I find information about treatment for Treacher Collins syndrome?

You may find information on treatment or management of Treacher Collins syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Treacher Collins syndrome?

You may find the following resources about Treacher Collins syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Micrognathia (http://www.nlm.nih.gov/medlineplus/ency/article/003306.htm)
    • Encyclopedia: Pinna Abnormalities and Low-Set Ears (http://www.nlm.nih.gov/medlineplus/ency/article/003303.htm)
    • Encyclopedia: Treacher-Collins Syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm)
    • Health Topic: Facial Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html)
    • Health Topic: Head and Brain Malformations (http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html)
  • Educational resources - Information pages
    • Ask the Geneticist: Inheritance of Treacher Collins syndrome (http://www.askthegen.org/question.php?question_id=959)
    • Center for Craniofacial Development and Disorders, Johns Hopkins Medicine (http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?MUArticleID=79&Source=Family)
    • Children's Hospital and Regional Medical Center, Seattle, Washington (http://craniofacial.seattlechildrens.org/conditions_treated/collins.asp)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,223/)
    • New York Online Access to Health (NOAH) (http://www.noah-health.org/en/genetic/conditions/treacher.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=861)
    • UC Davis Children's Hospital (http://www.ucdmc.ucdavis.edu/children/clinical_services/cleft_craniofacial/anomalies/treacher.html)
  • Patient support - For patients and families
    • American Speech-Language-Hearing Association (http://www.asha.org/)
    • Children's Craniofacial Association (http://www.ccakids.com/Syndrome/TreacherCollins.pdf)
    • Cleft Palate Foundation (http://www.cleftline.org/publications/treacher_collins)
    • Family Village (http://www.familyvillage.wisc.edu/lib_trec.htm)
    • Forward Face (http://www.forwardface.org/)
    • Let's Face It (http://www.dent.umich.edu/faceit/)
    • My Baby's Hearing, Boys Town National Research Hospital (http://www.babyhearing.org/)
    • National Association of the Deaf (http://www.nad.org/)
    • National Organization for Rare Disorders (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Treacher+Collins+Syndrome)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/treacher.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tcs)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2101)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22treacher+collins+syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Mandibulofacial+Dysostosis[MAJR])+AND+(Treacher+Collins+syndrome[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Treacher Collins Syndrome (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=246)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500)

What other names do people use for Treacher Collins syndrome?

  • Franceschetti-Zwahlen-Klein syndrome
  • Mandibulofacial dysostosis (MFD1)
  • Treacher Collins-Franceschetti syndrome
  • zygoauromandibular dysplasia

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Treacher Collins syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Treacher Collins syndrome?

apoptosis ; autosomal ; autosomal dominant ; cell ; cleft palate ; coloboma ; dysplasia ; gene ; inheritance ; micrognathia ; mutation ; new mutation ; palate ; pattern of inheritance ; protein ; respiratory ; sign ; symptom ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13403-8. Epub 2006 Aug 28. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16938878)
  • Gene Review: Treacher Collins Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tcs)
  • Marszalek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223-33. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12080178)
  • Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J. 2000 Sep;37(5):434. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11034023)
  • Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p6147-6152.
  • Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, Konig R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004 Nov;12(11):879-90. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15340364)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2006
Published: May 4, 2009