Williams Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.
Dunford Ashley et al. — The International journal of eating disorders (25 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41878794/
- 2.
Ovarian Hormones Moderate Systolic Hypertension in Female
Dixon Alethia J et al. — American journal of physiology. Renal physiology (23 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41869856/
- 3.
Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.
Chen Ya-Yue et al. — World journal of pediatrics : WJP (17 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41845159/
- 4.
Unaltered empathy-related behaviors in Williams-Beuren syndrome mouse models.
So Dahm et al. — Molecular brain (11 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41814397/
- 5.
Ebstein's anomaly with life-threatening arrhythmia: an unusual cardiovascular manifestation of Williams syndrome - a case report.
Schouw M E et al. — BMC cardiovascular disorders (2 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41772445/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Study of Ultomiris® (Ravulizumab) Safety in Pregnancy
Recruiting — Alexion Pharmaceuticals, Inc.
https://clinicaltrials.gov/study/NCT06312644
- 2.
Dinutuximab With Chemotherapy, Surgery and Stem Cell Transplantation for the Treatment of Children With Newly Diagnosed High Risk Neuroblastoma
Recruiting — Phase 3 — National Cancer Institute (NCI)
https://clinicaltrials.gov/study/NCT06172296
- 3.
Efficacy and Safety of a New Formulation of Oral Cladribine Compared With Placebo in Participants With Generalized Myasthenia Gravis (MyClad)
Recruiting — Phase 3 — Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany
https://clinicaltrials.gov/study/NCT06463587
- 4.
A Double-Blind, Active-Controlled, Multiple-Ascending Dose Study of Aerosolized RSP-1502 in Subjects With CF and Chronic PA Lung Infection
Recruiting — Phase 1 — Respirion Pharmaceuticals Pty Ltd
https://clinicaltrials.gov/study/NCT06016088
- 5.
A Study of Combination Chemotherapy for Patients With Newly Diagnosed DAWT and Relapsed FHWT
Recruiting — Phase 2 — Children's Oncology Group
https://clinicaltrials.gov/study/NCT04322318
- 6.
Depemokimab in Participants With Hypereosinophilic Syndrome, Efficacy, and Safety Trial
Recruiting — Phase 3 — GlaxoSmithKline
https://clinicaltrials.gov/study/NCT05334368
- 7.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
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.
Most Recent Research
OBJECTIVE: Eating disorder (ED) symptoms have been studied in adults with other rare genetic conditions but not in Williams syndrome (WS). This study examined the prevalence of ED symptoms in adults with WS and associated clinical and demographic factors. We hypothesized that a proportion would screen positive for an ED, primarily with avoidant/restrictive food intake disorder (ARFID) or binge-eating presentations. METHOD: Adults with WS completed modified versions of the Eating Disorder Assessment for DSM-5 and the Pica, ARFID, and Rumination Disorder Questionnaire, administered as semi-structured interviews by trained research staff. Participants also completed a medical history questionnaire. We used descriptive and between-group analyses to examine clinical and demographic characteristics of ED-positive and ED-negative groups. RESULTS: Of the 86 participants, more than one quarter (n = 24, 28%; 95% CI [20%, 38%]) screened positive for an ED. Adults who screened positive for an ED most commonly had binge-type EDs (n = 15, 63%; 95% CI [43%, 79%]) and ARFID-type EDs (n = 7, 29%; 95% CI [15%, 49%]). Of those who screened positive, 96% reported they had never been previously diagnosed with an ED. DISCUSSION: Our study provides initial evidence of a high frequency of positive ED screens in adults with WS, most commonly ARFID-type and binge-type EDs. Our findings also suggest that, while prevalent in WS, EDs typically go undetected, and that it may be difficult to identify at-risk individuals. There is a need to validate ED screeners for adults with WS to enhance detection and access to care.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.