What is Treacher Collins Syndrome?

Treacher Collins syndrome was named for British ophthalmologist, Edward Treacher Collins (1862-1932). In 1900, he described two children with small cheekbones and notches in their lower eyelids.

Treacher Collins syndrome is a craniofacial condition resulting from abnormal formation of the cheek and lower jaw bones. Treacher Collins syndrome occurs with a frequency of one in 10,000 live births.

Treacher Collins Syndrome Characteristics

Individuals with this syndrome are typically characterized by the following differences:
   -underdeveloped, flat or absent cheekbones
   -downward slanting eyes and notched lower eyelids, sometimes missing eyelashes
   -small, often slanted, lower jaw with an open bite
   -low-set, underdeveloped, malformed or missing ears   
   -scalp hair overgrowth into the facial area
   -cleft palate

Additional characteristics that may be present include:
    -compromised sound conduction and hearing loss due to abnormal formation of the inner ear
    -nasal airway obstruction
    -facial clefts

Treacher Collins Syndrome Treatment.

Treatment may include bone grafting to correct the cheek bones, jaw surgery, eye surgery, ear reconstruction, staged orthodontics, palatal closure, nasal reconstruction, speech therapy, and hearing aids.

What is the Cause of Treacher Collins Syndrome?

Treacher Collins is the result of a mutation in a gene known at TCOF1 which plays a key role in head and facial development. Chromosome 5 contains the TCOF1 gene.  

Treacher Collins syndrome is caused by a gene alteration, which is sporadic or is inherited. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Treacher Collins syndrome. If neither parent has Treacher Collins syndrome, their chances of having another child with Treacher Collins is minimal. If a parent has Treacher Collins syndrome, the chances that one or all of his/her children will have it are approximately 50 percent. 

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