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Diseases

Genetic and Rare Diseases Information Center (GARD)

Treacher Collins syndrome


Other Names for this Disease
  • Treacher Collins-Franceschetti syndrome
  • Mandibulofacial dysostosis
  • TCOF
  • TCS
  • MFD1
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Treacher Collins syndrome be treated?

There is currently no cure for Treacher Collins syndrome (TCS).[1] 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.[2]

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.[1]

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.[1][2] 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.[1]

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.[1][2]
Last updated: 11/11/2015

References
  1. Treacher Collins Syndrome. NORD. May 24, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/647/viewAbstract. Accessed 10/27/2014.
  2. 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.


Management Guidelines

  • 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.
  • The NORD Physician Guide  for Treacher Collins syndrome was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors.  The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. 
  • 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.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Treacher Collins syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Treacher Collins-Franceschetti syndrome
  • Mandibulofacial dysostosis
  • TCOF
  • TCS
  • MFD1
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.