What are the symptoms of Treacher Collins Syndrome?

By  ,  Onlymyhealth editorial team
Oct 25, 2012
Quick Bites

  • Treacher collins syndrome affects the development of facial bones.
  • The signs and symptoms of Treacher Collins Syndrome vary greatly.
  • The mutations in the TCOF1 or POLR1D gene cause the syndrome.
  • Some individuals have defects in the middle ear.

Treacher collins syndrome is characterized by the inappropriate development of bones and face tissues.  Most affected individuals have underdeveloped facial bones, particularly the cheek bones, jaw and chin (micrognathia). Some of the affected are also born with an opening in the roof of the mouth called a cleft palate. The disorder can be severe, as it can sometimes restrict an affected infant's airway to cause life-threatening respiratory problems.

 

Treacher Collins syndrome

 

Causes

People inherit Treacher Collins syndrome because of the mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition.

 

Symptoms

Those with Treacher Collins syndrome have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Eye abnormalities that can lead to vision loss are also associated with the disorder. Unusually formed ears, small and sometimes absent ears is another characteristic of the disorder. Some individuals have defects in the middle ear and may suffer from hearing problem (including hearing loss).

 

 

(Image source:Gettyimages)

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