Williams syndrome

Williams Syndrome is a rare disease that is caused by deletion of certain genes in chromosome 7 during the formation of reproductive cells. It is known as an autosomal dominant condition because one copy of the altered chromosome 7 is all that is needed to cause Williams Syndrome. While it can be inherited from a parent who already has the disease, it can also randomly occur in anyone. It causes some medical problems along with physical abnormalities, mental capacities, and personality characteristics

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

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

presented over Williams Syndrome. Williams Syndrome is a genetic condition that is caused by a deletion of 26-28 genes on chromosome seven. The more genes deleted, the more severe the characteristics will be. The deletion is also present from conception due to an abnormality of the egg or sperm cell. The syndrome is named after John C. Williams. However, Alois Beuren is also credited for research on Williams, which is why it used to be referred to as Williams-Beuren Syndrome. Williams occurs in less

Sturge-Weber Syndrome Kris Avila 08/30/2015 NURSPT 030L Mrs. B Abstract According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface

Angelman Syndrome & Prader-Willi Syndrome Introduction Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA

The article is titled “Communication Modality Sampling for a Toddler with Angelman Syndrome” by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. The authors explored three modes of communication, vocal, gestural, and graphic, with a young child with Angelman syndrome. The researchers investigated which mode of communication would be the most effective and efficient for the child. Angelman syndrome can cause cognitive, communication, and physical disabilities. It is a disorder that affects

Epidemiology: Obstructive sleep apnea is becoming more prevalent in adults and children in our society. Obstructive sleep apnea is undiagnosed mostly in women being 92% and 80% in men. The estimated prevalence in women is 2% and in men is 4%. A study was done by the University of Pennsylvania revealing that the prevalence in women was 4% and 9% for men. Another study called The Wisconsin Cohrt study showed that people who are 30 to 60 years old, the prevalence is 9-24% for men and 4-9% for women

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion

Brownsville, she was sent to Driscoll Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital, medical doctors diagnosed Janelle with Prader-Willi Syndrome. As you can imagine, so many questions and thoughts went through her parent’s minds. To start, what is Prader-Willi Syndrome (PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and