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

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.

• 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

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 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.

Treacher Collins Foundation -- www.treachercollinsfnd.org

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.

• Feeding difficulty
• Speaking difficulty
• Communication problems
• Vision problems
• Cosmetic appearance can cause other people to think the problem is worse than it is

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.

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