Learn About Treacher Collins Syndrome

What is the definition of Treacher Collins Syndrome?

Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.

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What are the alternative names for Treacher Collins Syndrome?

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

What are the causes of Treacher Collins Syndrome?

Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.

This condition may vary in severity from generation to generation and from person to person.

What are the symptoms of Treacher Collins Syndrome?

Symptoms may include:

  • Outer part of the ears are abnormal or almost completely missing
  • Hearing loss
  • Very small jaw (micrognathia)
  • Very large mouth
  • Defect in the lower eyelid (coloboma)
  • Scalp hair that reaches to the cheeks
  • Cleft palate
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What are the current treatments for Treacher Collins Syndrome?

Hearing loss is treated to ensure better performance in school.

Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

Who are the top Treacher Collins Syndrome Local Doctors?
Elite
Highly rated in
12
conditions
Pediatrics

Seattle Childrens Hospital

Seattle, WA 

Carrie Heike is a Pediatrics doctor in Seattle, Washington. Dr. Heike is rated as an Elite doctor by MediFind in the treatment of Treacher Collins Syndrome. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, Acrofacial Dysostosis Rodriguez Type, and Treacher Collins Syndrome. She is licensed to treat patients in Washington. Dr. Heike is currently accepting new patients.

Elite
Highly rated in
5
conditions

Sophia's Children's Hospital Rotterdam

Rotterdam, ZH, NL 

Cornelia Caron is in Rotterdam, Netherlands. Caron is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Treacher Collins Syndrome, Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, and Acrofacial Dysostosis Rodriguez Type.

 
 
 
 
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Distinguished
Highly rated in
6
conditions
Otolaryngology

UNC Ear, Nose And Throat

Chapel Hill, NC 

A Drake is an Otolaryngologist in Chapel Hill, North Carolina. Dr. Drake has been practicing medicine for over 31 years and is rated as a Distinguished doctor by MediFind in the treatment of Treacher Collins Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, Acrofacial Dysostosis Rodriguez Type, and Treacher Collins Syndrome. She is board certified in Otolaryngology and licensed to treat patients in North Carolina. Dr. Drake is currently accepting new patients.

What are the support groups for Treacher Collins Syndrome?

FACES: The National Craniofacial Association -- www.faces-cranio.org/

What is the outlook (prognosis) for Treacher Collins Syndrome?

Children with this syndrome typically grow to become functioning adults of normal intelligence.

What are the possible complications of Treacher Collins Syndrome?

Complications may include:

  • Feeding difficulty
  • Speaking difficulty
  • Communication problems
  • Vision problems
When should I contact a medical professional for Treacher Collins Syndrome?

This condition is most often seen at birth.

Genetic counseling can help families understand the condition and how to care for the person.

How do I prevent Treacher Collins Syndrome?

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

What are the latest Treacher Collins Syndrome Clinical Trials?
Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial
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Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
What are the Latest Advances for Treacher Collins Syndrome?
Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment.
Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study.
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Anesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center.
What are our references for Treacher Collins Syndrome?

Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.

Katsanis SH, Jabs EW. Treacher Collins syndrome. GeneReviews. 2012:8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Updated September 27, 2018. Accessed July 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.