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Treacher-Collins syndrome

Definition

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

Alternative Names

Mandibulofacial dysostosis

Causes, incidence, and risk factors

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). More than half of all cases are thought to be due to new gene changes (mutations) because there is no family history of the disease.

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 be done to look for mutations in the TCS1 gene.

Treatment

Treatment involves testing for and treating any hearing loss so that a child can perform at a normal level in school. Plastic surgery can treat the receding chin and other defects.

Support Groups

Treacher Collins Foundation -- www.treachercollinsfnd.org

Expectations (prognosis)

Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.

Complications

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

Calling your health care provider

This condition is usually apparent at birth. Call your health care provider if you have a child with symptoms of Treacher-Collins syndrome, including hearing loss or other problems.

A good plastic surgeon is very important, because children with this condition sometimes need a series of operations to correct birth defects. Genetic counseling can also help families understand the condition, the risk of inheriting it, and how to care for the patient.

Prevention

Inherited conditions usually cannot be prevented. However, genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome.