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
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