Williams Syndrome

87. Williams Syndrome



Definition


Williams syndrome is a rare genetic disorder that results in hypercalcemia, cardiovascular anomalies, neurodevelopmental and/or behavioral problems, and development of distinct facial features.


Incidence


The incidence of Williams syndrome is estimated to be 1:20,000, without racial, ethnic, or gender predilection.


Etiology


Unequal meiotic crossover produces interstitial deletions—notably, a deletion on band 7q11.23 near the elastin gene has been found in almost every patient with Williams syndrome.


Signs and Symptoms






• Bladder diverticula


• Bowel diverticula


• Calcified valvular aortic stenosis


• Cataract


• Coronary insufficiency


• Delayed motor development


• Dental malocclusion


• Failure to thrive


• Flat malar area


• Flat nasal bridge


• Full lips


• Gait ataxia


• Hearing loss


• Hyperactivity


• Hyperacusis


• Hypersensitivity to loud sounds or certain types of sounds


• Hypertension


• Hypoplastic nails


• Kyphoscoliosis


• Long philtrum


• Lordosis


• Mental retardation


• Microcephaly


• Periorbital fullness


• Precocious puberty


• Progressive joint contractures


• Raspy/harsh voice


• Reduced binocular vision


• Retinal vascular tortuosity


• Severe dental disease


• Severe pulmonary stenosis


• Short stature

Aug 5, 2016 | Posted by in ANESTHESIA | Comments Off on Williams Syndrome

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