Treacher-Collins syndrome is a hereditary condition that causes facial defects.
Alternative Names
Mandibulofacial dysostosis
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.
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) A flat or hypoplastic malar region (cheekbones) Facial clefts Small jaw ( micrognathia or hypoplastic mandible)
Low-set ears Ear malformation (unusual shape to the ears) Abnormal ear canal Conductive hearing loss
Defects in the eye ( coloboma that extends into the lower lid)
Decreased eyelashes on the lower eyelid
Treatment
Treatment consists of testing for and treating any hearing loss so 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 800-823-2055 www.treachercollinsfnd.org
Expectations (prognosis)
Children with Treacher-Collins should grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.
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.