The following is an excerpt....
BASICS
Description
- Williams-Beuren syndrome (WBS), also known as Williams syndrome, is a multisystem neurodevelopmental disorder characterized by subtle, distinctive facial features and intellectual disabilities, including a characteristic cognitive-behavioral profile (1).
- Growth retardation, hoarse voice, connective tissue abnormalities, vascular stenoses, (supravalvular aortic stenosis, peripheral pulmonary stenosis, renal artery stenosis), endocrine abnormalities (hypercalcemia, diabetes, subclinical and less often clinical hypothyroidism), musculoskeletal abnormalities (limited joint movement, lordosis), bowel and bladder diverticula
- System(s) affected: Cardiovascular; Gastrointestinal; Endocrine/Metabolic; Musculoskeletal; CNS; Renal/Urologic
- Synonym(s): Williams syndrome; Fanconi-type idiopathic infantile hypercalcemia; Elfin facies with hypercalcemia
ALERT:
Pediatric Considerations
- Infantile hypercalcemia, colic, failure to thrive
ALERT:
Pregnancy Considerations
- Genetic evaluation and counseling; prenatal diagnosis
Epidemiology
Incidence
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