Treacher Collins Syndrome was first documented on paper and named after by Edward Treacher Collins in the 1900s’ in Europe. Collins died in 1932 at the age of 70. Collins work was later brought up by Adolphe Franceschetti and David Klein who came across the same conditions but classified and named it as mandibulofacial dysostosis. This was discovered before Collins had written about it by Thomson and Toynbee in 1846-1847 and later by Berry (1889).
TCS is defined as an inherited condition in which some bones and tissues in the face aren’t developed fully. This affects not only the face but the head as well by causing downward-slanting eyes, small jaw and chin form as well as altering the development of facial tissues and bones. Some symptoms may also include hearing and vision loss. In some cases, babies that are born with this syndrome also have something called a cleft palate which means they are born with a hole in the roof of the mouth. Children born with this well also have difficult problems with breathing, chewing, speech, and swallowing.
A simple change in your chromosomes can cause this rare genetic disorder to appear. TCS affects 1 in 50,000 newborns worldwide since this condition can be passed through genetics but sometimes it is just caused by a
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Certain places will have genetic counselors to give information to the parents explaining the condition and how this may affect your family. Treatments for TCS can include cleft repair, enlarging and aligning the jaw and teeth, ear differences, and repairing eyelids. All these treatments help with improving speech, breathing, hearing, eyesight and eating. Reconstructive surgery is what these are classified under and so much more, such as rebuilding cheekbones and nose construction. Even with the surgery’s there will be therapy meetings to help the child adjust with everything, such as speech therapy and hearing
Jeffery Humble has established himself as one of the most active and respected community volunteers in Nashville and several other parts of the country. These philanthropic involvements range from volunteering for the Kentucky Junior Historical Society, hosting elaborate soirees and auctions to benefit Nashville CARES, assisting with the efforts of the Tennessee Equality Project (TEP), formerly serving in several leadership roles and functions for the Nashville Steering Committees and the Federal Club for the Human Rights Campaign (HRC), and even working with Feed My People in St. Louis, MI. His efforts, fueled by an entrepreneurial spirit and love of service, are starting to gain notice. The Center for Nonprofit Management (CNM) and The Tennessean
Terrill Thomas died a little over a year ago on April 24th, 2016 at a Milwaukee County Jail. Thomas passed away because of dehydration which was brought on by his water supply in his cell being cut off. Thomas was held in solitary confinement for a week after he was arrested for reckless endangerment and felony firearms violations. Along with criminal charges Thomas was bipolar which was left untreated and ignored by staff. Bipolar disorder prevents people from correctly showing their emotions or conveying what they need (Carpenter 2017). According to other inmates Thomas begged for water everyday and was ignored by every correctional officer. On the other hand the correctional officers claim Thomas said nothing to them. The lieutenant, Kashka Meadors says her directions were misinterpreted. The water supply for the toilet was just supposed to be shut off because Thomas kept flooding it. Whether or not directions were misinterpreted, it goes against standard operating procedure (Carpenter 2017). Thomas’s death was ruled a homicide but was brought up almost a year later because after the trial there more questions than answers. Since Thomas has passed there have been more deaths including three other people and even an infant. Prosecutors are not sure who they want to charge with the homicide of Terrill Thomas but they want answers.
Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.
Treacher Collins Syndrome is an uncommon inhertance usually from mom or dad. My paper will go over the causes, symptons, treatment, and possible future Genetic Technology that can be done to prevent and cure this disorder. This is not so much a life-threatening syndrome, but it does cause symptoms showing dramatic facial differences and internal issues.
TCS mainly affects the bones of the face, but it also affects how a person can breathe. That is why some people have holes in their throats with machines in them (tracheostomies); it is there to help them breathe. This disorder also may affect how a person swallows. If they cannot swallow food correctly then they will have a tube that goes into their stomach and food can be fed through there (gastrostomy).
Recent studies show that this syndrome may be associated with changing craniofacial and skeletal muscle metabolism, such as blood flow, which causes the chronic fatigue and severe weakness. Another hypothesis is that an infectious trauma to the body, such as a virus, triggers the illness. However, with this syndrome being new, no specific virus has been identified. There is though a plot study that shows that there is possible inherited tendency toward the disease. This disease/syndrome has increased
Metatropic dysplasia is inherited and can be passed down, meaning that is its autosomal dominant. It is also possible that there will be reoccurrences between siblings, though it is variable over time. Testing of the TRPV4 gene is available through CTGT and other corporations that specialize in genetic sequencing. Prenatal ultrasound scans will show narrow spinal canals and shortening of long bones and the supporting structure. Treatment of metatropic dysplasia after birth is possible but its effectiveness varies from each case and it is often an aggressive and labor intensive path to follow. Doctors’ main goals for patients with MTD are to establish satisfactory respiratory and pulmonary functions as well as reducing the amount of skeletal deformity. This may require several surgeries that have their own risks and outpatient treatment plan. If doctors can keep patients with MTD alive for longer periods of time, they will be able to determine which methods of treatment are the most effective. Since this is a genetic mutation, each case will require their oun unique set of tests, since there may be more than one contributing
There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.
In people with Trisomy 13, many deformities occur as a result of their genetic abnormality. One result of this disorder is a distinctive change in the subject’s appearance. Some external deformities include: a cleft lip or palate, clenched hands (with outer fingers on top of inner fingers), close-set eyes (or possibly one fused eye), decreased muscle tone, polydactyly (extra fingers or toes)(see figure 2), single palm crease (see figure 3), coloboma (having a hole, split, or cleft in the iris of the eye)(see figure 4), low-set ears, scalp defects such as missing skin, limb abnormalities, small eyes, a small head, a small lower jaw, and an undescended testicle in males (Haldeman-Englert, C., & A.D.A.M., 2016), or a prominent heel (Clark, Heather
“Cohesinopathies” is a term use to describe the mutation of proteins that affect the cohesin pathway. One of the identified cohesinopathies is Roberts Syndrome. Roberts syndrome, abbreviated RBS, is a rare autosomal recessive disorder characterized by a disruption within the cell division causing tetraphocomelia , microcephaly , cleft lip and eye abnormalities (1). There are a total of 141 people affected with this disease which gave rise to about 0.62 people infected per 100,000. Children with RBS are often times born with shortened limbs or severe facial abnormalities. Although the mortality rate of those that were infected with the disease was not reported, but for those that have survived needed surgery. In many cases, pregnancies were
“The state has not produced one iota of medical evidence to the effect that the crime Tom Robinson is charged with ever took place.” That is a quote from the book To Kill a Mockingbird by Harper Lee, said by Atticus Finch himself. Tom Robinson is, without a doubt, not guilty of even laying a finger on Mayella Ewell. And yet, there is substantial physical and testimonial evidence that someone else- quite possibly Mayella’s own father- is indeed guilty. Moreover, every witness testifying against Tom Robinson had extremely contradictory accounts of what happened. Some may argue that Tom Robinson had to reason to be at the Ewell residence in the first place unless to commit the crime, but his own testimony disproves this theory several times over.
I have a baby brother that has this syndrome. That’s the main reason for picking this syndrome. He didn’t start walking until he was around 4 years old. He’s not that good, but he can get to where he needs to go. He’s 11 but his brain functions as a 3-year-old. He can’t talk yet, but he can yell. He goes to the hospital and stays overnight for 1 or 2 days for a sleep test every year or every other year. This syndrome affects the family because we still have to schedule and move things around because he needs more attention and can’t really be left alone since due to this syndrome he can have episodes (seizures). A seizure is a sudden episode of uncontrolled electrical activity in the brain. I decided to
Her left eyelids were sagging and she couldn’t smile with her left lips properly. Upon the examination of her face, she was hardly able to move her left mouth and wrinkles of the left portion disappeared. Also, she couldn’t move her left eyebrows which means that the frontalis muscle stopped working, consequently she was diagnosed of having Bell’s Palsy which is a temporary facial paralysis of one side of the face due to a damage in the facial nerves (NIH,
Oral-facial-digital syndrome is a rare heterogeneous group of conditions that affect development of the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is caused by mutations in OFD1 gene and transmitted in an X-linked dominant pattern with embryonic male lethality. We present a family with clinical diagnosis of orofaciodigital syndrome type I, where two female siblings and their mother shared a novel mutation in the gene. Clinically, the sibling had oral,
This particular disease originates specifically from either a gene alteration, or our inherited genes, which are described as a mutation that targets the skeletal system. Achondroplasia can be inherited