Treacher Collins 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.

Alternative Names

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

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 (coloboma)
• 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 (coloboma that extends into the lower lid)
• 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

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.

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.