Treacher Collins Syndrome is an uncommon genetic disorder that causes craniofacial deformity: approximately 1 in 10,000 children are born with the syndrome. The syndrome is so named because of the English ophthalmologist Edward Treacher Collins who identified its principal characteristics around the year 1900. Treacher Collins Syndrome is also known as mandibulofacial dysostosis.
Typical Symptoms Of Treacher Collins Syndrome
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Downward slanting eyes
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A slanting or small lower jaw
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Prominent, malformed or absent ears
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Absent or malformed cheekbones
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Malformed eye sockets
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Notched eyelids
Many of the symptoms of Treacher Collins Syndrome can vary between subtle and extreme. The majority of Treacher Collins sufferers have some form of craniofacial abnormality, which tends to give the face a “sunken” appearance. Children with Treacher Collins Syndrome may also be born with a pronounced nose, small lower jaw and/or cleft palate. They may also suffer partial or full deafness as a result of the malformation of the bones in the ear that help us to hear.
It should be noted that Treacher Collins Syndrome does not normally affect intelligence or intellectual development.
What Causes Treacher Collins Syndrome?
Treacher Collins Syndrome can be an inherited genetic condition or a non-inherited new genetic mutation. It is caused by a genetic variance on the chromosome that affects how the face develops (chromosome 5). In a high percentage of Treacher Collins cases (between 40%-50%) the syndrome is passed on by a parent who has the determinant gene (TCOF1 - more commonly known as the “Treacle” gene).
Treating Treacher Collins Syndrome
The following treatments may be required for sufferers of Treacher Collins Syndrome:
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Hearing aid devices
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Reconstructive surgery for malformed ears
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Surgical reparation of the notched eyelids
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Surgical correction of the prominent nose
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Surgical correction of the jaw
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Surgical correction of the cheekbones
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Surgical correction of the eye sockets (sidewall and floors)
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Surgical repair of the cleft palate
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Speech and language programs (at the earliest opportunity)
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