Treacher Collins Research Paper

This is saying they are going to have some type of complications with missing chromosomes. “Most cases of Cri-Du-Chat is not inherited.” (Cri-Du-Chat syndrome clinical presentation,1) . Most don’t inherit this syndrome. It also affects infants because it 's really an intellectual disability.

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).

Metatropic dysplasia, also known as metatropic dwarfism is a very rare disease in humans that is often deadly and identifiable after birth or into the infant stages of a baby. It has been discussed that MTD is in part caused by mutations in the TRVP4 gene. This is located at 12q24.1 which is the long (q) arm of chromosome 12 at position 24.1, base pairs 109,784,087 to 109,833,407. There have been approximately 81 cases reported so far with odds of 1/1,000,000. A few cases have been severe to the point of endangering the mother’s life. This type of dwarfism affects the human skeleton in such a way that affects normal growth. Body proportions are abnormal, and a child will have unusual features such as shorter limbs, a narrow chest, and bones that have not developed correctly. Several facial deformities

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.

Microcephaly is where the head is small in size. There is a downward slant to the eyes. They have a low birth weight and weak muscle tone (hypotonia) in infancy. Patients also may have low-set ears. They may also have micrognathia, or a small jaw (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). Patients may also have a high palate, but rarely have a cleft lip. The corners of their mouth may be downturned and they may have a large nasal bridge. The majority of patients have abnormal dermatoglyphics, which are skin markings or patterns (Rodrígues-Caballero et al., 2010). Their facial features may change over time. Some have a heart defect (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). Patients may have cardiac, skeletal, genitourinary, or immune abnormalities (Rodríguez-Caballero et al., 2010). Their cardiac abnormalities often require surgical correction (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). They have recurrent respiratory infections. Pneumonia is a major cause of neonatal or infantile death (Gu et al., 2013). They have poor growth. They may excessively drool and have constipation. Patients may have partial webbing or fusing of fingers or toes, which is called syndactyly. Some may have a single line in the palm of their hands, which is called a simian crease. Patients may have skin tags in front of their

“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.

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

How is this disorder diagnosed and treated?,the reason of this is because genetic disorder is caused by the presence of all or part of an extra 18th chromosome.However, John H. Edwards has

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,

Usually represented by spinal malformations the hereditary disorder by growth and prenatal deficiency and is one of the causes of eye abnormalities.

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

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,