Mandibulofacial dysostosis

Alternative names

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 external ears to almost complete absence of an ear
  
• Hearing loss
  
• Very small jaw (micrognathia)
  
• Extra 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
  

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
www.treachercollinsfnd.org
800-823-2055

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.

Complications