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Treacher-Collins syndrome

Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face.

Alternative Names

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

Causes

Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher-Collins syndrome. The condition can be passed down through families (inherited), but most of the time there is not another affected family member.

This condition may vary in severity from generation to generation and from person to person.

Symptoms


  • Outer part of the ears are abnormal or almost completely missing
  • Hearing loss
  • Very small jaw (micrognathia )
  • Very large mouth
  • Defect in the lower eyelid (coloboma )
  • Scalp hair that reaches to the 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
  • Clefts in the face
  • Small jaw
  • Low-set ears
  • Abnormally formed ears
  • Abnormal ear canal
  • Hearing loss
  • Defects in the eye (coloboma that extends into the lower lid)
  • Decreased eyelashes on the lower eyelid

Genetic tests can help identify gene changes linked to this condition.

Treatment

Hearing loss is treated to ensure better performance in school.

Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

Support Groups

Treacher Collins Foundation -- www.treachercollinsfnd.org

Outlook (Prognosis)

Children with this syndrome typically grow to become functioning adults of normal intelligence.

Possible Complications


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

When to Contact a Medical Professional

This condition is usually seen at birth.

Genetic counseling can help families understand the condition and how to care for the patient.

Prevention

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

References

Katsanis SH, Jabs EW. Treacher Collins syndrome. 2004 Jul 20 [Updated August 30, 2012]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews  [serial online]. Seattle, WA: University of Washington, Seattle; 1993-2013. Accessed September 8, 2013.

Updated: 9/8/2013

Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


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