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ORPHA:1920

Toluene embryopathy

high confidenceDisorder

Publications

48

27th percentile

Trials

0

Interventional, condition-specific

Researchers

167

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A neurodevelopmental teratologic syndrome due to exposure to toluene. The disease is characterized by prematurity, low birth weight, features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.

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 (1)

toluene 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

    48 matched papers (9 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Hydronephrosis; Epicanthus; Smooth philtrum) 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)

22

Associated phenotypes · MONDO:0016016

  • Hydronephrosis
  • Epicanthus
  • Smooth philtrum
  • Low-set ears
  • Tapered finger

Showing 5 of 22 — 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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

48

48 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.

48 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).

9 in the last 10 years · high confidence · 27th percentile (publications denominator)

Phrase hits: 48 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

167

Distinct author names in 48 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
    Bowen SE7 papers · 2017

    Department of Psychology, Wayne State University, Detroit, MI 48202, USA. Scott.Bowen@wayne.edu

    Papers in Europe PMC
  2. 02
    Hannigan JH6 papers · 2017

    Department of Psychology, Wayne State University, Detroit, MI, United States; Department of Obstetrics & Gynecology, Wayne State University, Detroit, MI, United States; Merrill Palmer Skillman Institute for Child and Family Development, Wayne State University, Detroit, MI, United States.

    Papers in Europe PMC
  3. 03
    Chan MH5 papers · 2008

    Graduate Institute of Pharmacology and Toxicology, Tzu Chi University, Hualien, Taiwan.

    Papers in Europe PMC
  4. 04
    Chen HH5 papers · 2008

    Institute of Pharmacology and Toxicology, Tzu Chi University, Hualien, Taiwan.

    Papers in Europe PMC
  5. 05
    Chien TH3 papers · 2008

    Institute of Pharmacology and Toxicology, Tzu Chi University, 701, Section 3, Chung-Yang Road, Hualien, 970, and Cheng Hsin Rehabilitation Medical Center, Taipei, Taiwan.

    Papers in Europe PMC
  6. 06
    Hoyme HE3 papers · 2016

    Sanford Research and Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota; Center for Applied Genetics and Genomic Medicine and Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona; gene.hoyme@sanfordhealth.org.

    Papers in Europe PMC
  7. 07
    Bearer CF2 papers · 2018

    Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  8. 08
    Burry M2 papers · 2003

    Toxicology Program, University of Washington, Seattle, WA 98105, USA.

    Papers in Europe PMC
  9. 09
    Costa LG2 papers · 2003

    Toxicology Program, University of Washington, 4225 Roosevelt Way NE, #100, Seattle 98105-6099, USA. lgosta@u.washington.edu

    Papers in Europe PMC
  10. 10
    Guizzetti M2 papers · 2003
    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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Toluene embryopathy — 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.

"Toluene embryopathy"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Toluene 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 2026-07-26T18:30:44.603Z