Microdeletion syndrome with supravalvular aortic stenosis, elfin facies and hypercalcemia.
- 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
- Alternative names & eponyms
- Williams–Beuren syndrome
Etiology & mechanism
Deletion of 7q11.23 including ELN causes elastin arteriopathy.
Gene(s) involved (5)
Symptoms & signs (9)
In plain terms, someone with Williams syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Alagille syndrome
peripheral pulmonary stenosis
1 shared
Alport syndrome
hypertension
1 shared
Anomalous left coronary artery from pulmonary artery
sudden death
1 shared
Ask–Upmark kidney syndrome
hypertension
1 shared
Atypical hemolytic uremic syndrome
hypertension
1 shared
Burnett syndrome
hypercalcemia
1 shared
Chronic fatigue syndrome
cognitive impairment
1 shared
Conn syndrome
hypertension
1 shared
Cushing syndrome
hypertension
1 shared
Donohue syndrome
elfin facies
Shares genes with
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