Essay On Williams Syndrome

Not only is he the most nominated living individual in the history of the Academy Awards (with 49 nominations), but he is also the third most-nominated person in Hollywood History, second only to Metro Goldwyn Mayer (62) Walt Disney (59). In his credentials he holds five Academy Awards, seven British Academy Film Awards, 22 Grammy Awards, and 4 Golden Globe Awards. Considering that obtaining a single nomination for any of the aforementioned awards is remarkable in itself, this astounding number is truly

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

One in every 5,000 new borns can inherit this disease that is characterized by harelip, cleft palate, severe defects to of the eyes, brain and circulatory system. Some affected newborns will die within a year.

We can diagnose through therapy showing evidence of limitation or with lab tests that use direct sequencing on the CHN1 gene to look for mutations. The syndrome can be aided with therapy and surgery although no surgery has been proven to completely eliminate the symptoms of the syndrome but they do help. Boston’s Children Hospital is researching to more understand the genetics behind Duane’s Syndrome that includes radial ray anomalies. They have traced it back to Chromosome 20 and even identified it, they identified it as SALL4(Duane Syndrome Pediatric Research and Clinical Trials). This can help the way we diagnose, treat and maybe even prevent it in the

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

To diagnose the disease there is genetic testing. They take a few cells and examine the DNA. There is no treatment for the disease currently. If you have the disease, you are destined to die early. The environment does not affect the disease. Getting it is purely chance.

This website is a great website for parents who want to learn basic information on the disorder. It gives what the main symptoms are and how the disorder occurs. It explains what the treatments are and how the disorder is diagnosed in a clear easy way. It also gives a brief description that's easy to understand.

It is available when both members of a couple are carriers. These tests can also be used to screen if you are a carrier of the disorder. Although there is no cure for Sandhoff, there is treatment. These are used to manage symptoms and pro-long life expectancy.” Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures (NINDS)”. As a result of research there are more experimental treatments. For example, children can receive transplants of stem cells from an umbilical chord. Another way is through gene therapy; which is done by “restoring the missing enzyme by introducing the correct genetic code so proper enzyme production can occur (NTSAD). “ Due to further research attempts, after diagnosis, there are ways to treat and manage symptoms to provide comfort.

The most challenging medical diagnosis I have been introduced to is isodicentric chromosome 15 syndrome. This syndrome occurs in about 1 in 30,000 newborns and is a result from having an abnormal extra chromosome in each cell. The chromosome has mirror-image segments instead of a different segment at each

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome 22 Central, 2016). Before this time, individuals who had symptoms of this disorder were diagnosed with varying names such as, Cat Eye Syndrome, 22 Syndrome, or 22q11.2 Deletion Syndrome. In 2004, a support parent group for children with these

Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT gene that plays critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. Wnt3 is the only gene in which mutations are known to cause terta-amelia syndrome. The mutation detection frequency is unknown, as only a limited number of families have been studied. Tetra-Amelia syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being affected and not a carrier. Prenatal testing by molecular genetic testing is possible if the disease-causing mutation in WNT3 have been identified in an affected family member

For the purpose of this case study a focus will be placed upon the PRS and associated chromosomal deletions, which have caused global developmental delays, learning delays and present Jane with social and emotional challenges. Also considered will be the Duanes Syndrome and resulting visual impairment.

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now