Treacher-Collins syndrome

Definition

Treacher-Collins syndrome is a hereditary condition that causes facial defects.

Causes, incidence, and risk factors

Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease.

A defective gene, called treacle, is the cause of this disease.This condition has variable expression, which means there may be a great variation in severity from generation to generation.

Symptoms

• Abnormal to almost completely absent external ears
• Hearing loss
• Very small jaw (micrognathia )
• Very large mouth
• Defect in the lower eyelid (coloboma )
• Scalp hair extends onto cheeks
• Cleft palate

Signs and tests

The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:

• Abnormal eye shape (palpebral fissure, antimongoloid slant)
• Flat cheekbones
• Facial clefts
• Small jaw
• Low-set ears
• Malformed ears
• Abnormal ear canal
• Conductive hearing loss
• Defects in the eye (coloboma that extends into the lower lid)
• Decreased eyelashes on the lower eyelid
• Genetic testing for mutations on the treacle gene

Treatment

Treatment consists of testing for and treating any hearing loss so that a child can perform up to normal level in school. Plastic surgery can address the receding chin and other defects.

Support Groups

Treacher Collins Foundation -- www.treachercollinsfnd.org

Expectations (prognosis)

Children with Treacher-Collins 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
• Cosmetic appearance can cause other people to think the problem is worse than it is

Calling your health care provider

This condition is usually apparent at birth. Call your health care provider if you have a child with Treacher-Collins syndrome and the hearing appears to be worse, or if other problems arise. A good plastic surgeon is very important, as there is sometimes a need for a series of operations over years to correct birth defects.

Prevention

Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome.

Page Content:

Mandibulofacial dysostosis ; dysostosis mandibulofacial