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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Williams Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Are UK Research Priorities Aligned? Comparing the Research Priorities of the Down Syndrome, Fragile X Syndrome and Williams Syndrome Communities, With the Research and Funding Landscape
Laura Cristescu et al., Mind Brain and Education (9 October 2026)
https://doi.org/10.1111/mbe.70065
- 2.
Coarctation of the aorta as the presenting cardiovascular manifestation of Williams syndrome in an infant.
K R Ashwini et al., BMJ case reports (5 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42833838/
- 3.
Хірургічне поетапне лікування коарктації аорти у пацієнтки із синдромом Вільямса
Тарас Романюк et al., Шпитальна хірургія Журнал імені Л Я Ковальчука (30 September 2026)
https://doi.org/10.11603/2414-4533.2026.3.16531
- 4.
[Analysis of oral health status in Chinese children with Williams syndrome].
Lyu L H et al., Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology (30 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42811704/
- 5.
Domains of self-regulation in autism, Down syndrome, and Williams syndrome: Condition-specific or transdiagnostic?
Rahmati Yasamin et al., Research in developmental disabilities (30 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42815138/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
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Williams Syndrome
Williams syndrome is caused by a deletion of approximately 25 genes on chromosome 7, including the elastin gene. It causes supravalvular aortic stenosis, intellectual disability, a distinctive personality with strong language skills but poor visuospatial ability, and characteristic facial features. Cardiovascular monitoring is lifelong.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
ABSTRACT There is a lack of understanding of how research activity in learning disability compares with community research priorities in the United Kingdom, where an estimated 1.5 million people live with a learning disability. Using Down syndrome (DS), Fragile X syndrome (FXS) and Williams syndrome (WS) as model conditions with learning disability, we address this gap. We present a systematic review of UK research funding and journal articles on DS, FXS, and WS from 2013 to 2022 (Study 1; research portfolio), and a survey consultation with UK community representatives ( N = 452; people with DS, FXS, and WS, parent/carers, practitioners, researchers) of research priorities and their reflections on the research landscape (Study 2). We report a dominance of DS, FXS, and WS research on basic science and less emphasis on research with direct application to daily life. Community representatives expressed dissatisfaction with the current research portfolio. Top research priorities related to: treatments and interventions; health; mental health; services; and lifespan issues. This indicates that the current research portfolio is misaligned to community priorities. Future research should strive to be more closely aligned to these.
Common Questions
What is Williams Syndrome?
Williams syndrome is caused by a deletion of approximately 25 genes on chromosome 7, including the elastin gene. It causes supravalvular aortic stenosis, intellectual disability, a distinctive personality with strong language skills but poor visuospatial ability, and characteristic facial features. Cardiovascular monitoring is lifelong.
How many clinical trials are available for Williams Syndrome?
RareWays currently indexes 12 clinical trials for Williams Syndrome, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Williams Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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