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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

Causes, incidence, and risk factors:

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited).

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
Signs 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.

A good plastic surgeon is very important, because children with this condition sometimes 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

Expectations (prognosis):

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

Complications:
  • Feeding difficulty
  • Speaking difficulty
  • Communication problems
  • Vision problems
Calling your health care provider:

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.


Review Date: 8/4/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.

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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