Williams Syndrome Research Paper

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.

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.

Over the weekend, the Buffalo Bills did the unthinkable and released 2015 fifth-round pick running back Karlos Williams. Despite, having an outstanding rookie campaign, where Williams rushed for 517 yards on 93 carries and seven touchdowns. The Bills were not happy with the young running back's commitment to the game.

Individuals with WS will suffer various cardia, vascular and gastrointestinal problems (Wessel et al. 1994, Hallidie-Smith et al., 1998,). They also have some distinctive facial features, including a small upturned nose, long philtrum, wide mouth, full lips, small chin, and puffiness around the eyes (Morris & Mervis, 2000). In infancy, hypercalcaemia as another common feature of WS can cause the symptoms of vomiting, irritability (Black & Carter, 1963), moreover, children with WS usually have the difficulties of feeding and toilet training. In terms of behavioural features, Williams Syndrome is associated with development delay in motor skills and atypical behaviour when they are compared with the topical development children (Sparaci, Stefanini, Marotta, Vicari & Rizzolatti, 2012), for example,

Dr. Daniel Hale Williams was born on January 18, 1856 in Hollidaysburg, Pennsylvania. He was one of the first physicans to perform an open-heart surgery in the United States and founded a hospital with an interracial staff.

In general, there are several consistent characteristics that are usual for people diagnosed with Waardenburg syndrome and are mostly persistent across all the different types. These include hearing loss and distinct facial abnormalities, such as sideways positioning of the eyes, lowered tear ducts, widen nasal bridge, and thicker eyebrows. It also includes loss of pigmentation or discoloration in the skin, hair, and eyes. Within these symptoms, and the others that are present in only specific types of the disorder, there is an extreme amount of variation (“Waardenburg Syndrome - NORD”). Genetically, Waardenburg syndrome is categorized as autosomal dominant, meaning that in most

Audrey- entering middle school/age 12- Has difficulties in math fluency, math calculations, and applied problems. Difficulties with reading decoding and fluency. She has attention weaknesses that are typical of children with Williams Syndrome. Has difficulties with hands-on learning tasks due to difficulties when visual motor integration is required.

Other neurodevelopmental disorders which are less common are Fragile X syndrome and Williams’s syndrome. William’s syndrome comes into existence because of deletions/missing of small genetic material from chromosome 7.

Edwards Syndrome is very unique. It is a genetic disorder that has odd symptoms. Its history is pretty

Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a chromosomal abnormality. It is characterized by mild to moderate hyperphagia, severe obesity, intellectual disabilities, and behavioral and psychiatric difficulties. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. It occurs in approximately one in 25,000 to 30,000 live births with no distinguishing sex or race association.

Females that have Turner's Syndrome about 30% of them have extra folds of skin on their neck, lymphedema, skeletal abnormalities, or kidney problems. (Genetics Home Reference, 2018). Lymphedema or Oedema is where the back of the hands, and top of the feet get swollen, but disappear within a couple of months after birth. Vomiting food in the first few months after birth is common because of the high-arched palate as well. Some other symptoms are the development of secondary sexual characteristics, for example developed breasts or sexual hair. (Genetics Educations, 2018). Most women with this syndrome can not become pregnant, but is very rare; unfortunately they would have a higher risk of a miscarriages and birth abnormalities. A life threatening problem would be the heart

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent, in structures called chromosomes. You have 23 pairs of chromosomes in each cell of your body. Each chromosome contains thousands of genes. Our genes determine how our body functions, what we look like and sometimes what diseases we will get. A female

Special genetic tests are able to detect abnormalities in the baby's chromosomes that are characteristic of Prader-Willi syndrome.

The disorder affects 1 out of 40,000 newborns (Atlas Genetics). Almost 90% of patients with this disease have a parent with the disease, but the symptoms in the parent can be very different from the symptoms in the child (MedlinePlus). Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are inherited as autosomal dominant traits, which means one copy of the altered gene in each cell is sufficient to cause Waardenburg syndrome (GHR). Manifestations of the disorder may not be present in individuals that inherit the altered gene for the disease. Some cases of the disorder, such as type 3 (WS3) and type 4 (WS4) have an autosomal recessive pattern of inheritance. Type 1 and type 2 of Waardenburg syndrome can also be acquired even when there is no family history of the disorder. The disorder can be caused from new genetic changes that occur spontaneously for unknown reasons. Researches indicate that new sporadic mutations for type 1 of Waardenburg syndrome may be associated with the advanced age of the father. In dominant disorders, a single copy of the gene with the disease that is either received from the mother of father will be expressed in the offspring by dominating the other normal gene, which causes the result in the appearance of the syndrome (Rare

May-Thurner Syndrome is a rare condition,with no symptoms that causes the left iliac vein in your pelvis to narrow or completely be pressed off due to pressure from the right common iliac artery. The iliac vein is the main supply of blood to the left leg. When this vein is put under pressure is causes blood to flow abnormally which can lead to deep vein thrombosis. How will you know if you have MTS?