williams syndrome…

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low nasal bridge, williams-beuren syndrome, williams syndrome, genetic disorder characterized by mild mental retardation, distinctive facial appearance, calcium balance, blood vessel disease, williams syndrome, genetic disorder characterized by developmental delay, unusual facial appearance, narrowing, the aorta, large artery that leaves the heart, particular cognitive, personality profiles, a rare condition, missing genetic material on one copy of chromosome 7, problem, a random mutation, parents, not have any family history, williams syndrome has a 50% chance of passing the disorder on to each child, occurs in, 1 in 20,000 births, the missing genes, gene that produces elastin, a protein, elasticity to blood vessels, tissues, likely that having only one copy of this gene results, in the narrowing of blood vessels seen in this condition, mild-to-moderate mental retardation, short stature relative to family, feeding problems, colic, reflux, vomitting, due to low muscle tone, poor gag reflex, joint laxity, progress to stiffness, patient gets older, developmental delay, initially delayed speech development, turn into relative loquacious speech later, relatively strong learning by hearing, distractibility, learning disorders, example poor visual-spatial abilities, blood vessel narrowing, supravalvular aortic stenosis, pulmonic stenosis, pulmonary artery stenosis, pectus excavatum, sunken chest, clinodactyly, an inward bend, the small finger, personality traits include overtly friendly, trusting strangers, fear of loud sounds, physical contact, an affinity, music, prominent lips, an open mouth, flattened nasal bridge, small upturned nose, epicanthal folds, long philtrum, midline from upper lip margin to lower nose, unusual pattern in iris, "stellate", star-like, partial absence, the teeth, defective tooth enamel, widely-spaced teeth, heart failure, depending on degree of heart defect, high blood calcium level, hypercalcemia, seizures, muscle rigidity, hypertension, depending on degree of blood vessel narrowing, echocardiography, doppler, blood vessel narrowing, periodic blood pressure check, kidney ultrasound, patients have renal defects, blood test, chromosome deletion that, a fish test, genetic defect found in 99% of patients, williams syndrome, far sightedness, no cure, williams syndrome, supplemental calcium, vitamin d, avoided, important to treat high levels of blood calcium, blood vessel narrowing, a significant health problem, severity, physical therapy is helpful to patients, joint stiffness, developmental, speech therapy, help these children, verbal strengths, compensate, weaknesses, treatments, individualized, a particular patient's symptoms, coordination of treatment by a geneticist experienced, williams syndrome, beneficial, williams syndrome foundation, wsf, 949-uci-7259, williams syndrome association, williams-syndrome, 248-541-3630, degree of mental retardation is found in, 75% of patients, williams syndrome, most patients have a shortened life expectancy, due to complications, majority of patients, not live independently of care givers, blood vessel narrowing, cause heart failure, elevated calcium, lead to calcium deposits, in the kidney, kidney problems, abdominal pain is common, variety of reasons, have been rare cases of children, williams syndrome having complications, death, anesthesia, signs of williams syndrome, not be apparent at birth, child has features that might be suggestive of williams syndrome, seek genetic counseling, family history of williams syndrome, no known prevention, the random mutation, family history of williams syndrome prenatal genetic testing is available.