Treacher Collins Syndrome

Danielle Mercer1, Fern Tsien2, and Barbara Gordon-Wendt1

1 Department of Communication Disorders, LSUHSC School of Allied Health Professions
2 Department of Genetics, LSUHSC School of Medicine

Treacher Collins syndrome occurs in about 1 in 50,000 live births.  This syndrome causes craniofacial deformities, which leads to facial features such as down-slanting eyes, a small jaw, cleft palate (a hole in the roof of the mouth), and dental problems.  Ears are abnormally formed, and the ear canals are small or absent altogether.  Because of these problems, a conductive hearing loss is seen.  There is a great deal of variability among those with Treacher Collins syndrome.  Some patients are only mildly affected while others are severely affected and require many surgeries.  The inheritance pattern of Treacher Collins syndrome is usually autosomal dominant, but there is an autosomal recessive gene that causes less than 2% of Treacher Collins cases.  About 60% of the autosomal dominant cases are due to new mutations, and so occur in patients with no family history of the disorder.  The remaining 40% of cases are inherited from an affected parent.  Due to the wide variability seen between patients, it is possible for the parent passing on the mutation to be so mildly affected that a diagnosis has not been made. 

Treacher Collins syndrome major signs and symptoms:

  • abnormally formed ears
  • small or absent ear canals
  • hearing loss
  • dental problems
  • down-slanting eyes
  • notched lower eyelids
  • missing eyelashes
  • small jaw
  • cleft palate

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2012 10:40:33 AM

Child with Treacher Collins syndrome