ORPHA:904
Williams syndrome
Also known as: Deletion 7q11.23 · Monosomy 7q11.23 · Williams-Beuren syndrome
Publications
7,815
96.8th percentile
Trials
12
Interventional, condition-specific
Researchers
1,196
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A 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 (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008678
- MeSH:D018980
- OMIM:194050
- UMLS:C0175702
- NCIT:C85232
Additional Mondo synonyms (3)
Williams-Beuren syndrome (WBS) · deletion 7q11.23 · monosomy 7q11.23
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
7,815 matched papers (3,699 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
12 matched on ClinicalTrials.gov (4 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
7,815
7,815 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
7,815 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
3,699 in the last 10 years · medium confidence · 96.8th percentile (publications denominator)
Phrase hits: 7,815 · MeSH hits: 0
Who's working on it?
1,196
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Campuzano V11 papers · 2025
Department of Biomedical Sciences, School of Medicine and Health Sciences, University of Barcelona, and centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
Papers in Europe PMC - 02Kozel BA8 papers · 2025
Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 03Chen J7 papers · 2025
Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. jimei_1965@outlook.com.
Papers in Europe PMC - 04Egea G7 papers · 2025
Department of Biomedical Sciences, School of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.
Papers in Europe PMC - 05Liu D6 papers · 2025
Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 06Ortiz-Romero P6 papers · 2023
Department of Biomedical Sciences, School of Medicine and Health Sciences, University of Barcelona, and centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
Papers in Europe PMC - 07Osgood S6 papers · 2024
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Papers in Europe PMC - 08Raja N6 papers · 2024
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Papers in Europe PMC - 09Abdalla N5 papers · 2025
Department of Biomedical Sciences, School of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.
Papers in Europe PMC - 10Bedeschi MF5 papers · 2025
Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
12
interventional trials for this specific condition
12 interventional trials matched this specific condition name; 4 currently recruiting in our sample.
Data as of 27 July 2026
12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).
medium confidence · 92.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
12 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07285720·RECRUITING·Phonological Constraints on Language Development in Individuals With Williams Syndrome
Conditions: Williams Syndrome · Language · Phonological Short-Term Memory · EEG-NIRS·Matched via name phrase
- NCT00768820·RECRUITING·The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome · Williams Syndrome · Fragile X Syndrome·Matched via name phrase
- NCT03836300·ENROLLING BY INVITATION·Parent and Infant Inter(X)Action Intervention (PIXI)
Conditions: Fragile X Syndrome · Angelman Syndrome · Prader-Willi Syndrome · Dup15Q Syndrome·Matched via name phrase
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
Observational and natural-history studies
16 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07509879·NOT YET RECRUITING·Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
Conditions: Williams Syndrome · Autism Disorder·Matched via name phrase
- NCT04463316·RECRUITING·GROWing Up With Rare GENEtic Syndromes
Conditions: Prader-Willi Syndrome · PWS-like Syndrome · Silver Russel Syndrome · Congenital Hypopituitarism·Matched via name phrase
- NCT07493096·RECRUITING·Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
Conditions: Neurodevelopmental Disorders · Neurodevelopmental Disorders (NDD) · Neurodevelopmental Disorders and Developmental Abnormalities · Developmental Delay (Disorder)·Matched via name phrase
- NCT01132885·RECRUITING·Defining the Brain Phenotype of Children With Williams Syndrome
Conditions: Williams Syndrome · Duplication·Matched via name phrase
- NCT06930417·RECRUITING·Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Conditions: Williams Beuren Syndrome · Williams Syndrome · Williams Beuren Region Duplication · Dup7·Matched via name phrase
- NCT07537374·NOT YET RECRUITING·A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
Conditions: Williams Syndrome · Induced Pluripotent Stem Cell (Ips Cell)·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Williams syndrome" OR "Deletion 7q11.23" OR "Monosomy 7q11.23" OR "Williams-Beuren syndrome" OR "Williams-Beuren syndrome (WBS)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Williams syndrome" OR "Deletion 7q11.23" OR "Monosomy 7q11.23" OR "Williams-Beuren syndrome" OR "Williams-Beuren syndrome (WBS)"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 12 interventional · 16 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:51:40.002Z