Williams Syndrome Essay

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

About 10% of those who encounter it experience it from a pattern through their family(Duane’s Syndrome). When the syndrome does transmit through family patterns there have been cases in which duane’s syndrome has skipped generations and different family members have encountered individual levels of asperity. These genes can be found as both recessive and dominant although dominant is the most common form of the syndrome. While experiencing this disorder you can experience 3 types of symptoms all varying in the eyes ability to move inward or outward, also including the eyes retraction, closing of the eye opening, and downshoot or upshoot when looking inward (Duane’s

Williams Syndrome(WS) is considered as a neurodevelopmental disorder, caused by a contiguous gene deletion of about 26 genes from the long arm of chromosome 7(Peoples et al., 2000). Since it had been first aware by J.C.P. Williams in 1961(Lenhoff, Wang, Greenberg & Bellugi, 1997), Williams Syndrome has drawn more attention in last 40 years. the incidence rate is approximately 1 in 2000 and diagnosed generally at 6.4 years old (Morris, Demsey, Leonard, Dilts & Blackburn, 1988). People with WS usually show a developmental delay at the early age and are affected all life long. Williams Syndrome is characterised by some abnormalities in physical, behavioural, and cognitive.

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

This Noonan syndrome is not sex-linked. In other words, K.J. Jr. would have still had this disease even if he was a daughter. It associates to his autosomal chromosomes, or any chromosomes that aren’t sex linked. Therefore, the gene is not

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

Most commonly, Emanuel Syndrome is characterized by facial abnormalities, hypo or hyper muscular tension, significant mental delays, and/or, significant developmental delays. General features can include ear anomalies, preauricular tag or sinus, cleft or high-arched palate, micrognathia, microcephaly, kidney abnormalities, heart defects, and genital abnormalities in males (Carter, St. Pierre, Zackai, Emanuel & Boycott, 2009). Facial trademarks of this syndrome include: hooded eyelids, deep-set eyes, upslanting palpebral fissures, low-hanging columella, micrognathia, and facial asymmetry. Ear pits, heart malformations, and cleft palate, are some of the most common features of this syndrome (Carter, et, al. 2009). Additionally, myopia, strabismus, hearing impairment, seizures, failure to thrive, and recurrent infections, particularly otitis media have all been noted with this population.

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.

Thank you for giving me the additional resources and other tools that I need to be successful in your class. Although, I did not come out directly and say what was going on with me from a personal perspective, this was an uphill battle for me. Over the past year I have been in and out of work quite frequently secondary to a back surgery that had gone wrong and constantly hurt 24/7. When all is said and done, it was not the easiest thing to concentrate while hurting, however, my family, friends and you gave me the courage to keep pressing. Most times when I tried to grasp the material during multiple episodes of pain, the end result was not what I expected, but I reamin positive.

Smith-Magenis Syndrome (SMS) is a chromosomal disorder due to the deletion of genetic material on chromosome 17, more specifically 17p11.2 (PEDNEUR). It is estimated that SMS occurs in about 1 in every 25,000 births, affects boys and girls equally, and is underdiagnosed because there’s not as much awareness about it compared to other disorders and syndromes (PRISMS). Therefore, the prevalence may be 1 in every 15,000 births, and most of the people with SMS have been identified in the last 5 to 10 years due to improved cytogenetic testing (PEDNEUR). SMS was first discovered by Ann C.M. Smith a genetic counselor, and Dr. R. Ellen Magenis a physician and chromosome expert in 1986 (PEDNEUR).

In conclusion, genetic disorders mutate the DNA and in some cases, delete portions of it. Williams Syndrome is a genetic disorder that affects the genetic material on the seventh chromosome. The locus of 7q11.23 has over 25 genes deleted, which is why Williams Syndrome has so many implications and symptoms. Distinct facial features and facial structure characterize Williams Syndrome. It can also be marked by severe cardiovascular difficulties and other issues that make life quite difficult for the person suffering from this disorder. Williams Syndrome also affects the mental capacity and logical thinking of the brain. This implies that daily tasks and schoolwork can be greatly affected and require special care. Williams Syndrome is also considered

Being a new parent to a child with a disability can be challenging but with the right knowledge, anyone can develop a positive mindset. A child with a rare genetic disorder like Williams Syndrome is unique like any other child. Besides every child with Williams Syndrome having a developmental and/or learning disability, they are susceptible to heart problems as well. There is a shorter life expectancy that comes along with this condition but managing symptoms may help. Along with weaknesses, Williams Syndrome also comes with many strengths as you will find out, strengths such as good social skills, great verbal abilities, and many times children respond well to music-related hobbies.

For a student with Williams Syndrome they continue to fall behind with development and maturity behind their peers. Students begin to struggle with fitting in because their social skills are less appropriate. Their interests are not as varied as their peers which makes it a greater challenge socially. Students can have increased anxiety and depression and they “don’t understand why they’re different” (fact sheet). Students with Williams Syndrome have decreasing activity levels, but they continue to acquire new skills.

There are over 5,000 genetic disorders passed down through the generations. These disorders are caused by abnormalities within the chromosomes of an individual. Rubinstein-Taybi syndrome, or RSTS, is a rare genetic disorder that occurs in 1 child out of anywhere between 100,000 to 125,000 children. It was identified by Dr. Hooshang Taybi, a pediatric radiologist, and Dr. Jack Rubinstein, a pediatrics professor, in 1963.