Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible. How common is Williams syndrome? Williams syndrome affects an estimated 1 in 7, to 10, people.
WMS General Discussion Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth prenatal and postnatal growth retardationshort stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.
Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward anteverted nares. Affected individuals may also have unusually short eyelid folds palpebral fissuresflared eyebrows, a small lower jaw mandibleand prominent ears.
Dental abnormalities may also occur including abnormally small, underdeveloped teeth hypodontia with small, slender roots. Cardiac defects may include obstruction of proper blood flow from the lower right chamber ventricle of the heart to the lungs pulmonary stenosis or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body supravalvular aortic stenosis.
Musculoskeletal abnormalities associated with Williams syndrome may include depression of the breastbone pectus excavatumabnormal side-to-side or front-to-back curvature of the spine scoliosis or kyphosisor an awkward gait.
In addition, most affected individuals have mild to moderate mental retardation; poor visual-motor integration skills; a friendly, outgoing, talkative manner of speech; a short attention span; and are easily distracted.
In most individuals with Williams syndrome, the disorder appears to occur spontaneously for unknown reasons sporadically. However, familial cases have also been reported.
Sporadic and familial cases are thought to result from deletion of genetic material from adjacent genes contiguous genes within a specific region of chromosome 7 7q Individuals with Williams syndrome will not have all the symptoms listed below.
Some affected individuals do not have heart cardiac abnormalities; others may not have elevated levels of calcium in the body hypercalcemia. In addition, the severity of these symptoms often varies greatly from case to case. Some children with Williams syndrome may have a low birth weight, feed poorly, and fail to gain weight and grow at the expected rate failure to thrive.
Symptoms such as vomiting, gagging, diarrhea, and constipation are common during infancy. Calcium levels usually return to normal around the age of 12 months.
However, in some cases, hypercalcemia may last into adulthood. Linear growth may be delayed during the first four years of life. However, growth spurts usually occur between the age of five and 10 years. Most people with Williams syndrome are less than average height during their adult years.
Some infants with Williams Syndrome may have dental abnormalities including malformed teeth i. A star-like stellate pattern in the iris of the eye may be apparent in about 50 percent of children with this disorder. It is most pronounced in those infants with blue or green eyes.
This pattern may be harder to see in those children with darker eyes or it may not be present. Affected infants may also experience inward deviation of the eyes esotropia and farsightedness hyperopia.
Children with Williams syndrome are extremely sensitive to sound and may overreact to unusually loud or high-pitched sounds hyperacusis. Chronic middle ear infections otitis media are often present. The development of secondary sexual characteristics e.
Breast development and menstruation may occur earlier than expected in females with Williams syndrome. Individuals with this disorder may also have an unusually hoarse voice. Congenital heart defects CHD occur in approximately 75 percent of children with Williams syndrome.
The most frequent defect is supravalvar aortic stenosis, a condition characterized by the narrowing of the aorta above the aortic valve.
The aorta is the main artery of the vascular system. Blood passes from the left ventricle of the heart, through the aortic valve, and into the aorta. In supravalvar aortic stenosis, the area above the aortic valve becomes unusually narrow.Children with Williams syndrome tend to be social, friendly and endearing.
Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.
Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose and full cheeks, an . Williams syndrome is a rare genetic disorder that causes a variety of symptoms and learning issues.
Children with this syndrome could have problems with their heart, blood vessels, kidneys, and. Williams Syndrome - Pictures, Symptoms, Causes, Treatment, Facts, Life Expectancy.
This is a disorder that is genetic and is very rare leading to problems with. Partners in Policymaking is a free program designed to educate people with disabilities and their family members/caregivers and supply them with the power of advocacy to positively change the way people with disabilities are supported and heartoftexashop.com Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more.