ORPHA:1906
Fetal valproate spectrum disorder
Also known as: Fetal valproate syndrome · Fetal valproic acid syndrome · Valproic acid embryopathy
Publications
264
58.5th percentile
Trials
0
Interventional, condition-specific
Researchers
988
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, anomalies and (especially in language and communication).
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:0012275
- MeSH:C536525
- OMIM:609442
- UMLS:C0236026
- NCIT:C98930
Additional Mondo synonyms (2)
fetal valproate syndrome · fetal valproic acid syndrome
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
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
264 matched papers (110 in last 10 years) Source
- Phenotype characterisedPresent
8 HPO annotations (e.g. Thin vermilion border; Long philtrum; Depressed nasal ridge) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
8
Associated phenotypes · MONDO:0012275
- Thin vermilion border
- Long philtrum
- Depressed nasal ridge
- Omphalocele
- Downturned corners of mouth
Showing 5 of 8 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Valproic Acid · marker/mechanism
Literature
Is anyone studying this?
264
264 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=3967) is 59.
264 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
110 in the last 10 years · high confidence · 58.5th percentile (publications denominator)
Phrase hits: 264 · MeSH hits: 0
Who's working on it?
988
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.
- 01Clayton-Smith J9 papers · 2026
Department of Clinical Genetics, St Mary's Hospital, Whitworth Park, Manchester, UK.
Papers in Europe PMC - 02Shin CY5 papers · 2020
Department of Neuroscience, School of Medicine and Neuroscience Research Center, Institute SMART-IABS, Konkuk University, Seoul 143-701, Korea.
Papers in Europe PMC - 03Astill D4 papers · 2026
Foetal Anti-Convulsant Syndrome New Zealand, PO Box 82-175, Highland Park, Auckland, 2143 New Zealand.
Papers in Europe PMC - 04Bromley RL4 papers · 2026
Division of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. Electronic address: Rebecca.bromley@manchester.ac.uk.
Papers in Europe PMC - 05Hansen JM4 papers · 2024
Department of Cell Biology and Physiology, Brigham Young University, Provo, UT 84602, USA.
Papers in Europe PMC - 06Kim JW4 papers · 2020
Department of Neuroscience, School of Medicine and Neuroscience Research Center, Institute SMART-IABS, Konkuk University, Seoul 143-701, Korea.
Papers in Europe PMC - 07Kim KC4 papers · 2016
Department of Neuroscience, School of Medicine and Neuroscience Research Center, Institute SMART-IABS, Konkuk University, Seoul 143-701, Korea.
Papers in Europe PMC - 08Bromley R3 papers · 2024
Division of Neuroscience, School of Biological Sciences, Faculty of Medicine, Biology and Health, University of Manchester, UK.
Papers in Europe PMC - 09
- 10Dean JC3 papers · 2002
Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 2ZD, UK. j.dean@abdn.ac.uk
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (2)
- isrctn·ISRCTN10055429·No longer recruiting·Can 3D photography at birth help to detect prenatal alcohol exposure?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN01253916·No longer recruiting·Antiepileptic drug monitoring In pregnancy
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Fetal valproate spectrum disorder — check Associations / patient organisations on that page.
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.
"Fetal valproate spectrum disorder" OR "Fetal valproate syndrome" OR "Fetal valproic acid syndrome" OR "Valproic acid embryopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fetal valproate spectrum disorder" OR "Fetal valproate syndrome" OR "Fetal valproic acid syndrome" OR "Valproic acid embryopathy"
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:28:01.160Z