Williams syndrome
MONDO:0008678A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
Also known as: Williams syndrome, Williams-Beuren syndrome, Williams-Beuren syndrome (WBS), deletion 7q11.23, monosomy 7q11.23, WBS, WMS, chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb
18 clinical trials for this condition and its sub-types.
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Tiny blood sample, big clues: stem cell study aims to unlock williams syndrome brain mystery
Knowledge-focused Not yet recruitingThis study will collect blood from 3 children with Williams syndrome and 3 healthy children. Scientists will turn blood cells into stem cells and then into brain cells to study how the brain develops differently in Williams syndrome. The goal is to understand the disease better, …
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
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Brain study aims to crack social skill mysteries in rare disorders
Knowledge-focused Not yet recruitingThis study looks at how the brains of children with Williams syndrome and autism differ, focusing on social and thinking skills. Researchers will compare 75 children aged 3-12 from three groups: those with Williams syndrome, those with autism, and typically developing kids. No tr…
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC