Causes Of Treacher Collins Syndrome

The cleft needs to be repaired (through surgical interventions like palatoplasty) because it’s extremely important for feeding and swallowing, as well as speech. Similar to sleep, without sufficient nutrition, an individual will not be able to fully develop. A lack of sufficient nutrition will affect an individual’s cognitive ability, as well as their physical health. This is why surgical intervention is such a critical component of the process and one of the steps that is completed earlier on in the process. In addition to cleft palates, velopharyngeal insufficiency is a common symptom for about forty percent of individuals with TCS, and is often related to a cleft palate. Velopharyngeal insufficiency can be related to issues with breathing and feeding. It is also related to articulation problems and hypernasality. The articulation issues are likely due to the lack of ability to build pressure and without pressure consonants are altered (Goorhuis-Brouwer & Priester, 2008,

Cri-du-chat Syndrome is caused by a specific deletion in chromosome 5. It will result in severe mental retardation, abnormal facial features, a small head and an abnormally developed larynx which can causes the child's cry to sound like a cat. Some affected individuals rarely survive past early childhood.

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

Tay-Sachs disease is a rare genetic disorder. Nathan Harney was only 10 months old when he was diagnosed with this fatal disease. At an early age, he started to lose his skills and had consistent seizures. He couldn’t walk, sit, or stand on his own. During a careful eye examination, Nathan’s doctor found a cherry red spot in his eye which led him to the conclusion that he suffered from Tay-Sachs. Later, after he had genetic testing, Nathan was officially diagnosed with the genetic disorder Tay-Sachs. Sadly, Nathan passed away on June 18, 2015 at the age of four (Aaron and Kathryn Harney, 2011).

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

Hello, Im Dr. Flores. I'm sorry but we believe that your child may be at risk to having Tay-Sachs Disease also known as GM2 gangliosidosis. She does not roll over like most babies, a little weak, and exaggerated responses to sudden noises, and both of you are of eastern and central European Jewish heritage which puts you at a higher risk to having Tay-Sachs. We’re gonna run a few test to confirm if your daughter has it…We’ve received the results back from the lab and i'm sorry to say but you're daughter has Tay-Sachs disease, Some of our test consisted of testing responses to sudden noises and checking for red spots at the back of the eyes. Which your child presented with as you can see in this image.Also blood tests to check if the body is producing the Hexosaminidase-A enzyme or Hex-A for short.

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Tay-Sachs disease is a genetic disorder which results in progressive destruction of the nervous system. Children are the most common victims of the disease. In the general population, Tay-Sachs itself is rare. Tay-Sachs disease is most commonly found in people of east and central European Jewish descent, French-Canadian communities of Quebec, Cajun population of Louisiana, and the Amish. Mutations in the HEXA gene are the cause of this disease. This can happen in Prophase one of Meiosis due to the crossing of the sister chromatids in tetrad form may have mutated the chromosome encoding all the info for the Hexa gene. The HEXA gene gives instructions to make part of an enzyme called beta-hexosaminidase A. Alterations in the HEXA gene may damage

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.

Jeune syndrome is a rare inherited disease that has a significant impact on infants and small children. As a result of this disease infants with this condition usually experiences difficulty breathing, kidney abnormalities, and other life threatening issues. Antenatal examination is possible by ultrasound but specific diagnosis is difficult and seemingly impossible. Individuals are diagnosed at birth after careful observation of the limbs and chest area. Patients usually die from respiratory failure because of a very small chest and repeated respiratory infections (Phillips and Van Aalst 2008). There is not a lot that can be done for patients with Jeune syndrome because scientists are still in the process of obtaining knowledge about the initial cause and ways to prevent the mutation (Phillips and Van Aalst 2008). It is understood that because this is autosomal recessive disease, meaning both parents must be carriers.

Tay-Sachs disease takes place when there is an absence of hexosaminidase A within the human body. Hexosaminidase A is protein that allows for the breakdown of gangliosides, or chemicals found in nerve tissue. In the absence of Hexosaminidase A, gangliosides accumulate in cells, particularly within nerve cells of the brain. The main cause of Tay-Sachs disease is identified as a defective gene on a chromosome. In order for a child to inherit the disease, the child must receive the defective gene from both parents. If the defective gene is only inherited from one parent, the child only has one copy and is considered a carrier of the disease. As a carrier, the child will not have the disease, but will be able to pass it on to offspring. Although

Aetiology behind the characteristic cry in children with this syndrome can be described as two-factor. Anatomical changes in the epiglottis and the larynx but also structural and/or functional neurological alterations are deemed to be in the background of the symptom. Larynx is small, narrow and diamond-shaped, epiglottis small, flaccid and hypotonic. Malformations in the rhombencephalic region of the brain along with those larynx deformities are probably due to alterations of the cranial base and develop during embryonal

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

Children who are affected by Hutchinson-Gilford Progeria syndrome typically look normal at birth. But then grow more slowly, they don’t gain weight, and overall fail to thrive. They then start to develop an odd facial appearance. This includes prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and ears that stick further out the side of the head overtime. It also results in hair loss, older looking skin, joint abnormalities, and a loss of fat under the skin known as subcutaneous fat. Individuals with this type of progeria typically live to only 13 years of age. Luckily this is a rare type, only 1 out of 4 million newborns worldwide are diagnosed with Hutchinson-Gilford progeria.

The most serious of these being hyaline membrane disease (HMD), most commonly known as RDS or respiratory distress syndrome. Babies that suffer from this condition will tend to find it very difficult to breathe due to the increased surface tension and the ultimate lack of oxygen transported through the body can seriously impair and damage the functions of the brain and other organs of the baby. Surfactant deficiency’s can also sometimes be caused by mutations in a particular gene. An example of this is surfactant protein or SP-B deficiency. This particular dysfunction is hereditary and is caused by a gene mutation on chromes number two. Babies that suffer from tis condition rarely survive past a few months. However there are some procedures that can help babies who may have been born prematurely and have not manufactured enough surfactants to support regular functions. Surfactant replacement therapy and surfactant supplements are amongst the most popular treatments of these types of surfactant deficiencies in newly born