Molly McCoy

Diversity Paper

I choose a rare syndrome called Mandibulofacial Dysostosis or more commonly known as TCS,
Treacher Collins syndrome. The main reason I choose this was because of the inspirational book
Wonder by R.J. Palacio. R.J wrote a story of a young boy named Auggie who goes to school, 5th grade,
for the first time. The twist however, is he has an extreme case of Treacher Collins syndrome which
makes it extremely difficult for him to fit in. Throughout this he plows through many bullies and hate but
also finds wonderful true friends. Having this syndrome I would believe would be very hard especially for
younger kids just trying to make friends and live their childhood to the fullest.

I selected this first article because it talks about how Treacher Collins syndrome affects your
physical appearance. This article was published by the U.S National Library of Medicine. They stated that
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the
face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe.
Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very
small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the
roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may
restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People
with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in
the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye
abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or
unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused
by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of
the ear canal. People with Treacher Collins syndrome usually have normal intelligence. I learned from
this article that unfortunately if you have TCS there are many deformations that come along with it. You
dont just have your physical appearance to worry about but also your hearing which can affect you
greatly. However, usually people with TCS have normal or higher intelligence. Sadly, kids with TCS will
affect my career if they are in my classroom or the school because other children will not understand
why kids with TCS look so different from them. They will stare, ask questions and more likely than not
bully them because they do not look like everyone around them.

The second article I choose was because it explained a little history of the syndrome and the
internal, or genetics, of TCS. This article was published by PubMed Central, PMC. They explained a lot
and said Treacher Collins syndrome (TCS, OMIM number 154500) is an autosomal dominant disorder of
craniofacial morphogenesis with high penetrance and variable expressivity. It is a congenital
malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids,
cheek bones, and jaws. The essential features of this syndrome were described by Treacher Collins, a
British ophthalmologist, in the year 1900, but the first extensive description of the condition was given
by Franceschetti and Klein in 1949 in which they coined the term Mandibulofacial Dysostosis. It is
estimated that the frequency of TCS is 1 in 50,000 live births. Approximately 60% of the autosomal
dominant occurrences arise as de novo mutation. Genetically, the treacle gene (TCOF1) is mutated. It is
found on chromosome 5q31.3-32 and encodes a serine/alanine rich nucleolar phosphoprotein
responsible for the craniofacial development. Symptoms of this disorder vary greatly, ranging from
almost unnoticeable to severe and it is most noticeably characterized by abnormalities of the head and
face. From this article I learned which gene was mutated, the treacle gene, and that it causes the
deformations of the face and head. I also learned how rare this syndrome is that 1 in 50,000 live births
have little to an extreme appearance of TCS. Knowing this does impact my career being aware of how
rare it is and how unlikely it will be that I ever have a child come through my classroom or the building I
am in with this, although I know it is possible.

My final article I choose was because it explains some difficulties a child or anyone with TCS will
have. It was published by Medicine net and they said A child with TCS may have sleep apnea and/or
conductive hearing loss; the loss of ear function may require a resource to provide child hearing aids.
Some individuals can be affected severely, and they may develop life-threatening breathing problems
(infantile apnea). Other abnormalities may make breathing and feeding difficult for a child due to the
narrowed obstruction of the nasal airways. Bad vision due to disfigured eye openings. A child may have
features of Pierre Robin sequence, in which the tongue is located farther back in the throat than
normal (glossoptosis), with or without and incomplete cleft palate of the mouth and airway
obstruction. I learned more from this article than any other because it made me aware of what other
difficulties come along with TCS like hearing loss trouble with eating, breathing and vision besides just
the physical and internal appearance. This will greatly affect myself as teacher if I have a child with this
because I will need to make sure they can hear as I teach, can see what I am teaching, they are able to
eat at lunch and their breathing is always okay.

In conclusion having a child with Treacher Collins syndrome would be very difficult but not
impossible at all. I will educate my other students on what that student has so they are kind. I would
love them like they were my own
 Bibliography

https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3227269/

http://www.medicinenet.com/treacher_collins_syndrome/article.htm