Remember Augie the kid from wonder, the kid who was different from others as we remember he had a facial disease that gave him low self-confidence. There are many face disorders/Diseases, but there is a special one called Treacher Collins syndrome. This syndrome has many affects like hearing loss, vision problems, as well as an abnormal face. It is a genetic issue that affects but apart from this these kids have to face and even more deadly problem, dealing with emotions. Some kids who have this rare type of disorder. But does this syndrome actually affect kids’ emotion along with the face? While this disorder affects the child's facial appearance and gives them poor hearing, it also affects the child emotionally.
Treacher Collins syndrome also has a diagnosis like the other ones but it can be discovered when the baby is in the stomach but it relies on clinical radio graphic findings. Sometimes the signs of this syndrome can be found when the baby is in the stomach. To be diagnosed the doctor would have to examine the baby carefully so signs are discovered. It is suspected to be a ribosomopathy (Any disease or malfunction of ribosomes or cell organelles that consist of RNA and proteins ), where a genetic abnormally causes impaired ribosome biogenesis & function resulting in a special clinical prototype.
Management is one of the most important things for parents to consider because the parent has to know how to prevent the child from having low self-esteem and to make the right educational choices for the child because signs of low self-esteem could lead to hurt feelings. The parents also need to know a lot in order to overcome the other difficulties of this syndrome.
Due to the child's abnormal facial appearance, p...
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...the feeding difficulty but it is mainly Micrognathia.
Due to the abnormal bone formation the eyes are slightly tilted so the Person has a difficulty seeing or known as vision problems. Due to the slanted eyes it is hard for those people who have this syndrome to see the also have droopy misshaped eyes with notched lower lids absent lower eyelashes absent floor of the eye sockets
Because of the smaller earlobe this symptom causes hearing loss for the people who have it. The hearing loss is one of the most critical side effects of treacher Collins syndrome. Hearing losses can also lead to educational difficulties and major speech delay.
People who face this syndrome have all sorts of problems including; vision, hearing, speech, facial problems suffer from Treacher Collins syndrome. This syndrome can lead to many symptoms and if can cause emotional problems too.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Regarding to the ocular examination, the patient's visual acuity without optical correction (spectacle) was good 20/20 in both eyes. IOP measurements was 18 mmHg on the right eye and 16 mmHg in the left eye. The pupil was equal, round and reactive to light with no afferent pupillary defect in both eyes. In extarocular movement test, there was limited downward gaze with
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
Familial dysautonomia affects the development of sensory neurons. It affects two important nervous systems: the autonomic nervous system, which controls a persons involuntary actions, and the sensory nervous system, which controls a persons senses. It starts at birth and shortens a victim’s life span drastically. (Genetics Home Reference)
There are a few forms of the disease, but the most common of these is the one that appears in infants. Identified through a “cherry red spot” in the eyes, Tay-Sachs begins with slowed development and movements. It then progresses into the complete loss of motor skills, and as the infant grows into a child, they experience vision loss, hearing loss, paralysis, and seizures. Those affected with this type of Tay-Sachs rarely survive through childhood.
It is pretty outstanding how Achondroplasia is such a common disorder. However, what is really mind boggling is that there is still no cure or treatment that a person could go through. Since the disorder is so common and so impactful, you would think more research would be dedicated to finding a cure. Achondroplasia has many painful side effects and causes much strain on people’s lives. If a person suffers from Achondroplasia and decides to have kids, they have a 50% chance of passing it on to their children. Overall, Achondroplasia is a debilitating autosomal disorder that causes unnecessary amounts of strain on everyday lives.
Normally those who are affected with Jacob Syndrome look normal in physical appearance besides the fact that they are taller th...
...ve Achondroplasia. Clinical laboratories have available testing for the FGFR3 gene. When a child is diagnosed with Achondroplasia, parents should look for changes in bowel or bladder function, muscle weakness, and asymmetrical reflexes or respiratory problems. Many babies with Achondroplasia have troubles with repeating ear infections. Some may need ear tubes, which are placed into the ear to allow air in the middle ear to help lower the chances of ear infections. Without these tubes, the baby could lose its hearing. The spinal cord can also get compressed, making the upper airway obstructed, and increasing the risk of death for the baby. People with Achondroplasia also have breathing problems, during this breathing either stops or slows down for short amounts of time. ("GeneFacts")
It is estimated that 1 in 100,000 babies have Jacobson Syndrome. There have been over 200 cases reported. More females than males are diagnosed with the syndrome in a 2:1 ratio. Anyone can be a candidate for this syndrome since it occurs randomly.
People affected with this disorder may also have symptoms or features like growth retardation, a round face with full cheeks, a flat nasal bridge, downturned mouths,low set ears, and short fingers.
If your child gets Apert Syndrome they may have many physical defects as well as a few other problems such as slower learning, a cleft palate, vision problems, and problems with acne during puberty. I don’t think Apert Syndrome children die, expecially because you can pass Apert through genetics. A child with Apert Syndrome could live a pretty normal life.
The child may feel the need to perform and excel in every area of their life in order to get recognition. Not only does the child then appreciate recognition when a goal or accomplishment is achieved, but sometimes they feel the need to control the outcome of their accomplishment by continuously seeking new ways to earn recognition. Continuous extrinsic motivations such as these may result in the child feeling that by enhancing their performance and getting recognition from their actions and accomplishments they can control what people think of them. In simplest terms, the danger of becoming a people pleaser is put into play. While an authoritative parent monitors and would most likely intervene to change this developing belief system, unfortunately, a non-authoritative parent may not be the first to take this initiative in their child’s life. This parenting style typically leads to behaviors in the child where they may perform well in school to please their teachers, however they may also feel anxious, withdrawn, and have a general unhappiness. They most likely will have trouble dealing with the frustrations in life, will generally follow traditional roles of social expectations, and will enter into adulthood with a general lack of the warmth, unconditional love and nurturance that children require as they
In the discussion, I have learned different cultures and diverse techniques to work in early childhood environment. I also learned it is okay to express our feeling while I shared the struggles as well as sad story from my life. In the self-esteem research paper, I had a chance to discuss about my self-esteem while living in a new country. When I wrote this paper, I have learned that I have both positive and low self-esteem. Honestly, I have never paid attentions about my self-esteem. After writing this assignment, I was surprised that I could recognize my positive and low self-esteem. Personally, I think it is important to go back and exam on self-esteem because it will help me to understand more about myself. I have learning that having low self-esteem will not only effect to my everyday lives, but it may also lead to a mental health problem, such as depression or anxiety. Therefore, I need to maintain my positive self-esteem. Then, I will find techniques to boost my low self-esteem to positive
Self-esteem can be defined as how children feel about themselves. Children's levels of self-esteem are evident in their behavior and attitudes. If children feel good about themselves, these good feelings will be reflected in how they relate to friends, teachers, siblings, parents, and others. Self-esteem is something that affects individuals throughout life. Therefore, it is very important for parents to help their children develop healthy levels of self-esteem. There are many things parents can do to help their children learn that they are lovable, capable, and competent, beginning when their children are at a very young age. Unfortunately, it is also at a very young age that children can begin to develop low self-esteem. Parents must be very careful not to plant the seeds of low self-esteem in their children unknowingly. Children learn their first lessons about self-esteem from their parents.
...he cornea is deformed so that its surface is oval instead of spherical. Light rays are distorted at the entrance of the eye. This produces a blurred image and is known as astigmatism. To correct it, glasses are given a nonspherical or cylindrical curvature. Cross-eyes and walleyes are produced when both eyes do not work together because of weakness of the eye muscles.