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Treacher-Collins syndrome


Definition:

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.


Review Date: 9/8/2013
Reviewed By: 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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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