Mandibulofacial Dysostosis (Treacher Collins Syndrome) 

  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Nov 24, 2009
 

Background

Mandibulofacial dysostosis, also known as Treacher Collins syndrome (TCS; entry 154500 in the Online Mendelian Inheritance in Man [OMIM] classification system), is an inherited developmental disorder with a prevalence estimated to range between 1 in 40,000 to 1 in 70,000 of live births.[1, 2, 3, 4] Growth of craniofacial structures derived from the first and second pharyngeal arch, groove, and pouch is diminished symmetrically and bilaterally. The condition is recognizable at birth and can also be diagnosed prenatally based on ultrasonography findings.[5] The following images are examples of the characteristic features of this condition.

Anteroposterior view of 2-month-old boy with TreacAnteroposterior view of 2-month-old boy with Treacher Collins syndrome. Lateral view of 2-month-old boy with Treacher CollLateral view of 2-month-old boy with Treacher Collins syndrome. Anteroposterior view of 2-year-old boy with TreachAnteroposterior view of 2-year-old boy with Treacher Collins syndrome. Lateral views of 2-year-old boy with Treacher CollLateral views of 2-year-old boy with Treacher Collins syndrome.

Management of this condition is lengthy and requires a multidisciplinary approach focused on treatment of symptoms.

This syndrome was named after the eminent British ophthalmologist Edward Treacher Collins (1862-1932), who described the essential features of this syndrome in a paper in 1900. However, some features of this syndrome were probably first described by Thomson and Toynbee in 1846-1847 and later by Berry (1889), who is usually given credit for its discovery.[1] On the European continent, a more common name for this condition is Franceschetti-Zwahlen-Klein syndrome, based on extensive studies of mandibulofacial dysostosis published by the Swiss ophthalmologist Franceschetti and the geneticist Klein (1949).

Next

Epidemiology

Frequency

United States

Prevalence of Treacher Collins syndrome is in the range 1 per 25,000 to 1 in 50,000 live births.[1]

International

Prevalence of Treacher Collins syndrome is in the range 1 per 25,000 to 1 in 50,000 live births.[1]

Race

Treacher Collins syndrome has no race predilection.

Sex

Males and females are equally affected.

Age

In the vast majority of cases, Treacher Collins syndrome is clearly diagnosed at birth. Because of typical facial dysmorphology in severe cases, it may also be diagnosed prenatally by ultrasonography. In mild cases, with minimal expression of facial features, the syndrome may be undiagnosed at birth.

Previous
Proceed to Clinical Presentation
 
 
Contributor Information and Disclosures
Author

Marie M Tolarova, MD, PhD, DSc  Professor and Executive Director, UOP Craniofacial Team, Cleft Prevention Program, Department of Orthodontics, University of the Pacific School of Dentistry

Marie M Tolarova, MD, PhD, DSc is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American Society of Human Genetics, and International Association for Dental Research

Disclosure: Nothing to disclose.

Coauthor(s)

Granger B Wong, MD, DMD, FACS  Associate Professor of Surgery, Division of Plastic and Reconstructive Surgery, University of California Davis School of Medicine

Granger B Wong, MD, DMD, FACS is a member of the following medical societies: American Society of Plastic and Reconstructive Surgery

Disclosure: Nothing to disclose.

Surendra Varma, MD  Associate Dean, Graduate Medical Education and Resident Affairs, Ted Hartman Endowed Chair in Medical Education, University Distinguished Professor and Vice-Chairman of Pediatrics, Professor of Physiology and Health Organization Management, Director, Pediatric Residency Program, Texas Tech University Health Sciences Center School of Medicine

Surendra Varma, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Medical Association, American Thyroid Association, Endocrine Society, Medical Group Management Association, New York Academy of Sciences, Sigma Xi, Society for Pediatric Radiology, Southern Society for Pediatric Research, and Texas Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Elaine H Zackai, MD  Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia

Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Genzyme Grant/research funds PI

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck, 4th ed. Oxford University Press. 2001.

  2. Rovin S et al. Mandibulofacial dysostosis: A familial study of five generations. J Pediatrics. 1964;65:215-221.

  3. Marres HA, Cremers CW, Dixon MJ, et al. The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg. May 1995;121(5):509-14. [Medline].

  4. Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxilofac Surg. 1997;55:1120-33.

  5. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

  6. Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg. Jul 1975;13(1):1-26. [Medline].

  7. Sulik KK, Johnston MC, Smiley SJ, et al. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Am J Med Genet. Jun 1987;27(2):359-72. [Medline].

  8. Wiley MJ, Cauwenbergs P, Taylor IM. Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells. Acta Anat (Basel). 1983;116(2):180-92. [Medline].

  9. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet. Feb 1996;12(2):130-6. [Medline].

  10. Wise CA, Chiang LC, Paznekas WA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. Apr 1 1997;94(7):3110-5. [Medline]. [Full Text].

  11. Dixon, M. J. Treacher Collins syndrome. Hum. Molec. Genet. 1996;1391-1396.

  12. Edwards, S. J, Gladwin, A. J, Dixon, M. J. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 1997.;60:515-524.

  13. Horiuchi, K, Ariga, T, Fujioka, H. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Am. J. Med. Genet. 2004;128A:173-175.

  14. Lowry RB, Morgan K, Holmes TM, et al. Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. Am J Med Genet. Nov 1985;22(3):501-12. [Medline].

  15. Richieri-Costa A, Bortolozo MA, Lauris JR, et al. Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance. Am J Med Genet. Jul 1 1993;46(6):659-64. [Medline].

  16. Splendore A, Silva EO, Alonso LG, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. Oct 2000;16(4):315-22. [Medline].

  17. Cohen MM Jr, Rollnick BR, Kaye CI. Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J. Oct 1989;26(4):276-86. [Medline].

  18. Nicolaides KH, Johansson D, Donnai D, Rodeck CH. Prenatal diagnosis of mandibulofacial dysostosis. Prenat Diagn. May-Jun 1984;4(3):201-5. [Medline].

  19. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51. [Medline].

  20. Thompson JT, Anderson PJ, David DJ. Treacher Collins Syndrome: Protocol Management From Birth to Maturity. J Craniofac Surg. Oct 29 2009;[Medline].

  21. Berry GA. Note on a congenital defect (coloboma?) of the lower lid. R Lond Ophthalmol Hosp Rep. 1889;12:255-257.

  22. Collins ET. Cases of symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthal Soc UK. 1900;20:190-192.

  23. Franceschetti A, Klein D. Mandibulo-facial dysostosis: New hereditary syndrome. Acta Ophthalmol (Kbh). 1949;27:143-224.

  24. Moore MH, Guzman-Stein G, Proudman TW, et al. Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome. J Craniofac Surg. Feb 1994;5(1):22-5. [Medline].

  25. Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J. Sep 2000;37(5):434. [Medline]. [Full Text].

  26. Williams JK, Maull D, Grayson BH, et al. Early decannulation with bilateral mandibular distraction for tracheostomy-dependent patients. Plast Reconstr Surg. Jan 1999;103(1):48-57; discussion 58-9. [Medline].

 
Previous
Next
 
Anteroposterior view of 2-month-old boy with Treacher Collins syndrome.
Lateral view of 2-month-old boy with Treacher Collins syndrome.
Anteroposterior view of 2-year-old boy with Treacher Collins syndrome.
Lateral views of 2-year-old boy with Treacher Collins syndrome.
Anteroposterior view of 19-week-old fetus with Treacher Collins syndrome. Diagnosis was confirmed based on fetoscopy images. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51.
Lateral view of 19-week-old fetus with Treacher Collins syndrome. Diagnosis was confirmed based on fetoscopy images. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51.
Right-lateral cranial radiograph of an 18-month-old infant with Treacher Collins syndrome. Note the mandibular osteotomies and internal distraction hardware.
Left-lateral cranial radiograph showing mandibular osteotomy and distraction osteogeneses for micrognathia.
Lateral radiograph of same patient as in Media files 7 and 8. Completion of distraction; note increased mandibular length.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.