ORPHA:2305
Isotretinoin syndrome
Also known as: Isotretinoin embryopathy · Retinoic acid embryopathy · Retinoids embryopathy
Publications
154
53.3th percentile
Trials
0
Interventional, condition-specific
Researchers
673
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker , cognitive deficit) anomalies and thymic aplasia.
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:0016467
- MeSH:C535670
- UMLS:C2930972
- NCIT:C98929
Additional Mondo synonyms (6)
Fetal Retinoid Syndrome · fetal isotretinoin syndrome · fetal retinoid syndrome · foetal isotretinoin syndrome · foetal retinoid syndrome · retinoic acid 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
154 matched papers (50 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?
154
154 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.
154 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).
50 in the last 10 years · medium confidence · 53.3th percentile (publications denominator)
Phrase hits: 154 · MeSH hits: 0
Who's working on it?
673
Distinct author names in 154 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.
- 01Lammer EJ4 papers · 1990Papers in Europe PMC
- 02Trainor PA4 papers · 2025
Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110, USA. pat@stowers-institute.org
Papers in Europe PMC - 03Kane MA3 papers · 2025
University of Maryland Baltimore, School of Pharmacy, Department of Pharmaceutical Sciences, Baltimore, MD, United States.
Papers in Europe PMC - 04Koren G3 papers · 2004
Motherisk program, Division of Clinical Pharmacology, The Hospital for Sick Children and Sunnybrook and Women's College Health Sciences Centre and the University of Toronto, Toronto, Ont. gkoren@sickkids.ca
Papers in Europe PMC - 05Moise AR3 papers · 2025
Medical Sciences Division, Northern Ontario School of Medicine, Sudbury, ON, Canada; Departments of Chemistry and Biochemistry, and Biology and Biomolecular Sciences Program, Laurentian University, Sudbury, ON, Canada.
Papers in Europe PMC - 06Sulik KK3 papers · 1992
Department of Anatomy, University of North Carolina, Chapel Hill 27514.
Papers in Europe PMC - 07Bacchetta R2 papers · 2020
Department of Environmental Science and Policy, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 08Begleiter ML2 papers · 2000Papers in Europe PMC
- 09Cordero JF2 papers · 1994
José F. Cordero, M.D., M.P.H., is assistant director for science; R. Louise Floyd, D.S.N., R.N., is chief of the Fetal Alcohol Prevention Section; M. Louise Martin, D.V.M., M.S., is chief of the Surveillance Unit; Margarett Davis, M.D., M.P.H., is medical epidemiologist; and Karen Hymbaugh, M.P.A., is behavioral scientist in the Division of Birth Defects and Developmental Disabilities, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia.
Papers in Europe PMC - 10de Die-Smulders CE2 papers · 1995
Department of Clinical Genetics, University Hospital Maastricht, Netherlands.
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.
"Isotretinoin syndrome" OR "Isotretinoin embryopathy" OR "Retinoic acid embryopathy" OR "Retinoids embryopathy" OR "Fetal Retinoid Syndrome" OR "fetal isotretinoin syndrome" OR "foetal isotretinoin syndrome" OR "foetal retinoid syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isotretinoin syndrome" OR "Isotretinoin embryopathy" OR "Retinoic acid embryopathy" OR "Retinoids embryopathy" OR "Fetal Retinoid Syndrome" OR "fetal isotretinoin syndrome" OR "foetal isotretinoin syndrome" OR "foetal retinoid syndrome"
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 2026-07-26T19:45:50.660Z