Definition of Treacher-Collins syndrome:

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

Causes, incidence, and risk factors:

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

Signs 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

Expectations (prognosis):

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

Complications:

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

Calling your health care provider:

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.