ORPHA:1916
Diethylstilbestrol syndrome
Also known as: DES syndrome · Diethylstilbestrol embryofetopathy · Distilbene embryofetopathy · DES embryofetopathy
Publications
96
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
408
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016012
- UMLS:C0853695
- NCIT:C113422
Additional Mondo synonyms (1)
diethylstilbestrol embryofetopathy
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
96 matched papers (34 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
96
96 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
96 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).
34 in the last 10 years · medium confidence · 46.2th percentile (publications denominator)
Phrase hits: 96 · MeSH hits: 0
Who's working on it?
408
Distinct author names in 96 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Soto AM10 papers · 2021
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, Boston, MA 02111, USA. ana.soto@tufts.edu
Papers in Europe PMC - 02Sonnenschein C7 papers · 2021
Department of Immunology, Tufts University, School of Medicine, Boston, MA, USA.
Papers in Europe PMC - 03Rubin BS4 papers · 2009
Department of Anatomy and Cellular Biology, Tufts Medical School, Boston, MA 02111 USA.
Papers in Europe PMC - 04Iguchi T3 papers · 2021
Okazaki Institute for Integrative Bioscience, National Institute for Basic Biology, National Institutes of Natural Sciences, Faculty of Life Science, Graduate University for Advanced Studies, Okazaki, Japan. taisen@nibb.ac.jp
Papers in Europe PMC - 05Le Dantec C3 papers · 2016
INSERM ESPRI, ERI29/EA2216, SFR ScInBioS, LabEx IGO "Immunotherapy Graft Oncology", Réseau épigénétique et réseau canaux ioniques du Cancéropole Grand Ouest, European University of Brittany, Brest 29609, France. yves.renaudineau@univ-brest.fr.
Papers in Europe PMC - 06Maffini MV3 papers · 2009Papers in Europe PMC
- 07Renaudineau Y3 papers · 2016
INSERM ESPRI, ERI29/EA2216, SFR ScInBioS, LabEx IGO "Immunotherapy Graft Oncology", Réseau épigénétique et réseau canaux ioniques du Cancéropole Grand Ouest, European University of Brittany, Brest 29609, France. yves.renaudineau@univ-brest.fr.
Papers in Europe PMC - 08Abusamak M2 papers · 2022
Department of Surgery, School of Medicine, Al-Balqa Applied University, Amman, Jordan.
Papers in Europe PMC - 09Acién M2 papers · 2024
Department of P.H., Sc.H. and Gynecology/Division of Gynecology, Miguel Hernández University, San Juan Campus, 03550, San Juan, Alicante, Spain.
Papers in Europe PMC - 10Acién P2 papers · 2024
Department of P.H., Sc.H. and Gynecology/Division of Gynecology, Miguel Hernández University, San Juan Campus, 03550, San Juan, Alicante, Spain. acien@umh.es.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Diethylstilbestrol syndrome" OR "DES syndrome" OR "Diethylstilbestrol embryofetopathy" OR "Distilbene embryofetopathy" OR "DES embryofetopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Diethylstilbestrol syndrome" OR "DES syndrome" OR "Diethylstilbestrol embryofetopathy" OR "Distilbene embryofetopathy" OR "DES embryofetopathy"
Study-type breakdown: 0 interventional · 0 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 2026-07-26T18:29:51.490Z