Treacher Collins Syndrome... What's that?
Treacher Collins Syndrome is a disease affecting the shape of one's face.
The deformities are likely to be found on the individual's eyelids, eyes, cheek bones, ears, upper and lower jaws, depending
on the person themself the deformities can also vary widely. Treacher Collins in most children will not affect their
devolpement and intelligence, but their hearing could be affected and it would be crucial to have early hearing tests.
This way the child can use the benefits of using language programs and intervention speech early.
Symptoms/Other Problems
Physical Characteristics:
- down-slanting eyes
- notched lower eyelids
- underdevelopement/absence of cheekbones
- small and slanting lower jaw
- underdeveloped/distorted or prominent ears
Other Possible Problems:
- breathing/eating difficulties
- the abnormal ear deformity often causes a 40% hearing loss
- eye infections, due to the dryness of the eyes
- cleft palate in the mouth
How does someone get Treacher Collins?
Mutation-
Treacher Collins Syndrome can be caused by a mutation in the TCOF1 gene. The TCOF1 gene, is a
gene that provides a protein in the body called treacle. The treacle is vitally important to the facial development
of a child. Therefore, when a mutation occurs in the TCOF1 gene, it affects the treacle, causing Treacher Collins Syndrome
to occur. This is how almost 60% of cases come about.
Inherited-
Along with mutation, another way to get Treacher Collins is through inheritance. The condition
follows an autosomal dominant pattern of inheritance. This basically means that a child inherits fthe
disease through the altered gene from an affected parent.
Is there Treatment?
Treacher Collins can be treated with many surgeries in the face, to fix the deformities in the face.
To help with hearing problems, you must do many hearing tests and treatment so the person can hopefully perform normally in
school.
What is the Prognosis and Life-Span??
Other than the person's faith being deformed and hearing problems, most children with Treacher Collins
grow up to be regular adults with regular intelligence.
