ORPHA:1914
Vitamin K antagonist embryofetopathy
Also known as: Vitamin K antagonist embryopathy · Warfarin embryofetopathy · Warfarin embryopathy · di Sala syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
353
72.1th percentile
Trials
0
Interventional, condition-specific
Researchers
963
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, , spasticity, and ) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline .
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:0016010
- MeSH:C536683
- UMLS:C0265374
- NCIT:C98906
Additional Mondo synonyms (9)
fetal Coumadin syndrome · fetal warfarin syndrome · foetal Coumadin syndrome · foetal warfarin syndrome · vitamin K antagonist embryopathy · vitamin K-antagonist embryofetopathy · vitamin K-antagonist embryopathy · warfarin embryofetopathy · warfarin embryopathy
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
353 matched papers (137 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?
353
353 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.
353 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).
137 in the last 10 years · high confidence · 72.1th percentile (publications denominator)
Phrase hits: 353 · MeSH hits: 0
Who's working on it?
963
Distinct author names in 200 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.
- 01
- 02Cancela ML3 papers · 2023
Centre of Marine Sciences (CCMAR), University of Algarve, Faro, Portugal.
Papers in Europe PMC - 03Kumar S3 papers · 2021
Department of Cardiology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Papers in Europe PMC - 04Laizé V3 papers · 2023
Centre of Marine Sciences (CCMAR), University of Algarve, Faro, Portugal.
Papers in Europe PMC - 05Liu X3 papers · 2026
Department of Obstetrics, Affiliated Hospital of Jining Medical University, Jining, Shandong, China.
Papers in Europe PMC - 06Sharma JB3 papers · 2018
Department of Obstetrics and Gynecology, AIIMS, New Delhi, India. Electronic address: jbsharma2000@gmail.com.
Papers in Europe PMC - 07Singh N3 papers · 2021
Department of Maternal and Reproductive Health, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Papers in Europe PMC - 08Avila WS2 papers · 2025
Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Papers in Europe PMC - 09Beighton P2 papers · 2010Papers in Europe PMC
- 10Benoit E2 papers · 2020
USC 1233 RS2GP, VetAgro Sup, INRA, Univ Lyon, F-69280, Marcy L'etoile, France.
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.
high 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.
"Vitamin K antagonist embryofetopathy" OR "Vitamin K antagonist embryopathy" OR "Warfarin embryofetopathy" OR "Warfarin embryopathy" OR "di Sala syndrome" OR "fetal Coumadin syndrome" OR "fetal warfarin syndrome" OR "foetal Coumadin syndrome" OR "foetal warfarin syndrome" OR "vitamin K-antagonist embryofetopathy" OR "vitamin K-antagonist embryopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Vitamin K antagonist embryofetopathy" OR "Vitamin K antagonist embryopathy" OR "Warfarin embryofetopathy" OR "Warfarin embryopathy" OR "di Sala syndrome" OR "fetal Coumadin syndrome" OR "fetal warfarin syndrome" OR "foetal Coumadin syndrome" OR "foetal warfarin syndrome" OR "vitamin K-antagonist embryofetopathy" OR "vitamin K-antagonist embryopathy" OR "toxic or drug-related embryofetopathy"
Recall-expansion terms: toxic or drug-related embryofetopathy
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:29:27.248Z