Treacher-Collins syndrome

Alternative Names: Mandibulofacial dysostosis

Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face.

Causes of Treacher-Collins syndrome

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited).

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

Treacher-Collins syndrome Symptoms

• 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

Tests and Exams

The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:

• Abnormal eye shape
• Flat cheekbones
• Clefts in the face
• 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 of Treacher-Collins syndrome

Hearing loss is treated to ensure better performance in school.

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

Support Groups

Treacher Collins Foundation -- www.treachercollinsfnd.org

Prognosis (Outlook)

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

Potential Complications

• Feeding difficulty
• Speaking difficulty
• Communication problems
• Vision problems

When to Contact a Health Professional

This condition is usually seen at birth.

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

Prevention of Treacher-Collins syndrome

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

Review Date: 8/4/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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