{"product_id":"2940154475515","title":"Williams Syndrome, (Happy Elf Syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions","description":"\u003cp\u003eWilliams syndrome is an infrequent disorder that can result in physical and mental development.\u003cbr\u003eIt is inherited (passed down in families).\u003cbr\u003eMost people with Williams Syndrome are as friendly, happy and pure as the fairies found in the books of myths and tales.\u003cbr\u003eThe word \"elfin\" may have used to describe the facial features of people with Williams syndrome.\u003cbr\u003ePeople believed that persons with the syndrome, who have extremely charming and kind personalities, had extraordinary, even magical, powers.\u003cbr\u003eThey look like the elves with their mischievous upturned noses, pointed chins and flashy smiles.\u003cbr\u003eFor these persons with distinct elf-like facial features, the goodness of heart and the vulnerability of trust are symptoms of a genetic disorder (Williams Syndrome) that affects an estimated 1 in 7,500 to 10,000 people.\u003cbr\u003eIn spite of their intellectual difficulties, they are chatty, witty and tremendously friendly and they tend to hug everyone they meet.\u003cbr\u003eThe syndrome is characterized by distinct facies, connective tissue anomalies, intellectual disability, a specific cognitive profile, unique personality features, cardiovascular disease, growth abnormalities and endocrine abnormalities\u003cbr\u003eWilliams syndrome is caused by micro-deletion (not having a copy) of several genes.\u003cbr\u003eParents may not have any family history of the disorder.\u003cbr\u003ePeople with Williams syndrome have a 50% chance of passing the disorder on to each of their children.\u003cbr\u003eIt often happens randomly.\u003cbr\u003eOne of the 28 missing genes is the gene that produces elastin, a protein that permits blood vessels and other tissues in the body to stretch.\u003cbr\u003eIt is probable that missing a copy of this gene leads to the narrowing of blood vessels, stretchy skin, and flexible joints observed in this disorder.\u003cbr\u003eMedical presentations of infantile hyper-calcemia are present from birth through to adulthood\u003cbr\u003eThe WS phenotype is variable that no single medical feature is needed to establish the diagnosis.\u003cbr\u003eIt should be suspected in patients with these findings:\u003cbr\u003e1. Cardiovascular disease (elastin arteriopathy):\u003cbr\u003ea. Supra-valvular aortic stenosis (SVAS) is the most frequent and medically significant disorder occurring in 75% of patients.\u003cbr\u003eb. Peripheral pulmonic stenosis (PPS) is frequent in infancy even though any artery can be affected.\u003cbr\u003e2. Distinct facies:\u003cbr\u003ea. Broad forehead, bi-temporal narrowing, periorbital fullness.\u003cbr\u003eb. Star-like iris pattern, strabismus.\u003cbr\u003ec. Short nose with broad nasal tip.\u003cbr\u003ed. Long philtrum, wide mouth with thick vermilion of upper and lower lips.\u003cbr\u003e3. Connective tissue anomalies:\u003cbr\u003eThe diagnosis of Williams syndrome starts with recognition of physical symptoms and markers, which is followed by a confirmatory genetic test.\u003c\/p\u003e\u003cp\u003eThe physical signs that often implicate a suspected case of Williams syndrome are distension around the eyes, a long philtrum (groove on upper lip), and a star-like pattern in the iris.\u003cbr\u003eThe FISH test tests chromosome 7 and probes for the presence of two copies of the elastin gene.\u003cbr\u003eTests for Williams syndrome are:\u003cbr\u003e1. Blood pressure check\u003cbr\u003e2. Blood test for a missing piece of chromosome 7 (FISH test)\u003cbr\u003e3. Echocardiography combined with Doppler ultrasound\u003cbr\u003e4. Kidney ultrasound\u003cbr\u003ePhysical therapy is useful to treat patients with joint stiffness\u003c\/p\u003e\u003cp\u003eTABLE OF CONTENT\u003cbr\u003eIntroduction\u003cbr\u003eChapter 1 Williams Syndrome\u003cbr\u003eChapter 2 Causes\u003cbr\u003eChapter 3 Symptoms\u003cbr\u003eChapter 4 Diagnosis\u003cbr\u003eChapter 5 Treatment\u003cbr\u003eChapter 6 Prognosis\u003cbr\u003eChapter 7 Laughter\u003cbr\u003eChapter 8 Happiness\u003cbr\u003eEpilogue\u003c\/p\u003e","brand":"Kenneth Kee","offers":[{"title":"Default Title","offer_id":47074854076656,"sku":"2940154475515","price":2.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0737\/7593\/9824\/files\/2940154475515_p0.jpg?v=1764068878","url":"https:\/\/shop-qa.barnesandnoble.com\/products\/2940154475515","provider":"Barnes \u0026 Noble (DEV)","version":"1.0","type":"link"}