Williams-Beuren syndrome

Epidemiology

rare

Pathology

• supravalvular aortic stenosis
• dilated thick-walled coronary arteries
• premature atherosclerosis
• musculoskeletal abnormalities

Genetics

• contiguous gene deletion syndrome of 7q11.2 including
  • elastin, RFC2, FKBP6, frizzled 9, eIF4H, WBSCR4, BAZ1B genes
• haploinsufficiency resulting from gene deletion may be involved in certain features
  • eIF4H, WBSCR4, WBSCR11, WBSCR13, WBSCR14, WBSCR16, WBSCR18, WBSCR22, WBSCR23, BCL7B, STX1A, LIMK1, ELN
• also see Williams-Beuren syndrome chromosome region
• other associated genes: LAT2

Clinical manifestations

• elfin facies
• mental retardation
• systemic hypertension
• loquacious (talkative) personality
• hoarse voice
• lack of depth perception
• inability to visualize how parts assemble into larger objects

Laboratory

• serum calcium: hypercalcemia

More general terms

• developmental disorder syndrome (multisystem disorder)

Additional terms

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

Database

• OMIM: https://mirror.omim.org/entry/194050