Medical Health Encyclopedia

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Low nasal bridge

Overview Symptoms Treatment Prevention

Williams syndrome

Alternative Names: Williams-Beuren syndrome Symptoms: mild-to-moderate mental retardation short stature relative to family feeding problems including colic, reflux, vomitting (due to low muscle tone and poor gag reflex) joint laxity which may progress to stiffness as patient gets older developmental delay initially delayed speech development may turn into relative loquacious speech later and relatively strong learning by hearing distractibility learning disorders, for example poor visual-spatial abilities blood vessel narrowing including: supravalvular aortic stenosis, pulmonic stenosis, and pulmonary artery stenosis pectus excavatum (sunken chest) clinodactyly (an inward bend of the small finger) personality traits include being overtly friendly, trusting strangers, fear of loud sounds or physical contact, and an affinity for music Signs and tests: prominent lips with an open mouth flattened nasal bridge with small upturned nose epicanthal folds long philtrum (midline from upper lip margin to lower nose) unusual pattern in iris ("stellate" or star-like) partial absence of the teeth, defective tooth enamel, or small, widely-spaced teeth heart failure (depending on degree of heart defect) high blood calcium level, hypercalcemia, that may cause seizures and muscle rigidity hypertension (depending on degree of blood vessel narrowing) echocardiography with Doppler (may show blood vessel narrowing) periodic blood pressure check kidney ultrasound (some patients have renal defects) blood test for chromosome deletion that is called a FISH test (genetic defect found in 99% of patients with Williams syndrome) far sightedness

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited. Text Continues Below