Mandibulofacial dysostosis
    
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Mandibulofacial dysostosis

Definition

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

Alternative Names

Mandibulofacial dysostosis

Causes

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is inherited as an autosomal dominant trait. More than half of all cases are thought to be due to new mutations because there is no family history of the disease.

This condition may greatly vary in severity from generation to generation.

Symptoms

  • External ears that are abnormal to almost completely missing
  • Hearing loss
  • Very small jaw (micrognathia)
  • Very large mouth
  • Defect in the lower eyelid called acoloboma
  • Scalp hair that extends onto cheeks
  • Cleft palate

Exams 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
  • 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 tests can be done to look for mutations on the TCS1 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

Outlook (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.

Possible Complications

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

When to Contact a Medical Professional

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.

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