Causes

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.

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

Exams and Tests

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

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

Outlook (Prognosis)

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

Possible Complications

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

When to Contact a Medical Professional

This condition is usually seen at birth.

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

Prevention

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

Alternative Names

Mandibulofacial dysostosis

Updated: 4/4/2012

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.