Williams syndrome

Also known as: Williams–Beuren syndrome

Microdeletion syndrome with supravalvular aortic stenosis, elfin facies and hypercalcemia.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: BAZ1B, ELN, GTF2I, GTF2IRD1, LIMK1

Etiology & mechanism

Deletion of 7q11.23 including ELN causes elastin arteriopathy.

Gene(s) involved (5)

BAZ1BELNGTF2IGTF2IRD1LIMK1

Symptoms & signs (9)

cognitive impairmentelfin facieshypercalcemiahypertensionoverfriendly personalityperipheral pulmonary stenosisrenal artery stenosissudden deathsupravalvular aortic stenosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.