About Williams Syndrome
Williams syndrome is caused by a heterozygous microdeletion of approximately 26-28 genes on chromosome 7q11.23, including the ELN gene encoding elastin. The characteristic phenotype includes elfin facial features, intellectual disability with a distinctive cognitive profile (strong verbal skills but weak visuospatial ability), hypersociability, cardiovascular disease (supravalvular aortic stenosis), hypercalcemia, and endocrine abnormalities.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Williams Syndrome trials.
Chromosome 7q11.23 deletion confirmed by FISH, chromosomal microarray, or MLPA is required for trial eligibility
Cardiac evaluation including echocardiogram is required at baseline — SVAS severity affects eligibility and anesthetic risk
Cognitive profile testing (Wechsler scales, adaptive behavior) is a standard baseline measure
Calcium and vitamin D levels should be documented; hypercalcemia may be an exclusion criterion in some trials
Patient Resources
Find recruiting Williams Syndrome trials
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