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Treacher Collins syndrome

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

Definition

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.

Causes

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.

Symptoms

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
Scalp hair that reaches to the cheeks
Cleft palate

Exams and Tests

The child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:

Abnormal eye shape
Flat cheekbones
Cleft palate or lip
Small jaw
Low-set ears
Abnormally formed ears
Abnormal ear canal
Hearing loss
Defects in the eye
Decreased eyelashes on the lower eyelid

Genetic tests can help identify gene changes linked to this condition.

Treatment

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.

Support Groups

More information and support for people with Treacher Collins syndrome and their families can be found at:

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

Outlook (Prognosis)

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

Possible Complications

Complications may include:

Feeding difficulty
Speaking difficulty
Communication problems
Vision problems

When to Contact a Medical Professional

This condition is most often seen at birth.

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

Prevention

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

References

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.

Goldstein JA, Davit AJ, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 23.

National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Treacher-Collins syndrome. rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome. Updated February 2023. Accessed October 17, 2023.

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.

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Review Date: 9/18/2023

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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