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Williams-Beuren syndrome

Epidemiology: rare Pathology: 1) supravalvular aortic stenosis 2) dilated thick-walled coronary arteries 3) premature atherosclerosis 4) musculoskeletal abnormalities Genetics: 1) contiguous gene deletion syndrome of 7q11.2 including - elastin, RFC2, FKBP6, frizzled 9, eIF4H, WBSCR4, BAZ1B genes 2) haploinsufficiency resulting from gene deletion may be involved in certain features - eIF4H, WBSCR4, WBSCR11, WBSCR13, WBSCR14, WBSCR16, WBSCR18, WBSCR22, WBSCR23, BCL7B, STX1A, LIMK1, ELN 3) also see Williams-Beuren syndrome chromosome region 4) other associated genes: LAT2 Clinical manifestations: 1) elfin facies 2) mental retardation 3) systemic hypertension 4) loquacious (talkative) personality 5) hoarse voice 6) lack of depth perception 7) inability to visualize how parts assemble into larger objects Laboratory: - serum calcium: hypercalcemia

Related

Williams-Beuren syndrome chromosome region Williams-Beuren syndrome chromosome region protein

General

developmental disorder syndrome (multisystem disorder)

Database Correlations

OMIM 194050

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 39
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039