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ORPHA:2305

Isotretinoin syndrome

medium confidenceDisorder

Also known as: Isotretinoin embryopathy · Retinoic acid embryopathy · Retinoids embryopathy

Publications

154

47.6th percentile

Trials

0

Interventional, condition-specific

Researchers

673

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    154 matched papers (50 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Micrognathia; Sacral dimple; Hypotonia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

12

Associated phenotypes · MONDO:0016467

  • Micrognathia
  • Sacral dimple
  • Hypotonia
  • Hypoplastic toenails
  • Spina bifida occulta

Showing 5 of 12 — 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.

  • Isotretinoin · marker/mechanism

MyDisease.info · MONDO:0016467

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=3967) is 59.

154 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).

50 in the last 10 years · medium confidence · 47.6th percentile (publications denominator)

Phrase hits: 154 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Lammer EJ4 papers · 1990
    Papers in Europe PMC
  2. 02
    Trainor 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
  3. 03
    Kane MA3 papers · 2025

    University of Maryland Baltimore, School of Pharmacy, Department of Pharmaceutical Sciences, Baltimore, MD, United States.

    Papers in Europe PMC
  4. 04
    Koren 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
  5. 05
    Moise 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
  6. 06
    Sulik KK3 papers · 1992

    Department of Anatomy, University of North Carolina, Chapel Hill 27514.

    Papers in Europe PMC
  7. 07
    Bacchetta R2 papers · 2020

    Department of Environmental Science and Policy, Università degli Studi di Milano, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Begleiter ML2 papers · 2000
    Papers in Europe PMC
  9. 09
    Cordero 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
  10. 10
    de 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 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.

medium 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 4 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Isotretinoin syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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