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ORPHA:1915

Fetal alcohol syndrome

low confidenceDisorder

Also known as: ARND · Alcohol-related birth defects · Alcohol-related neurodevelopmental disorder · FAS · FASD · Fetal alcohol spectrum disorders · ARBD

Publications

11,500

Trials

50

Interventional, condition-specific

Researchers

968

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Fetal alcohol syndrome (FAS) is a rare syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).

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)

alcohol-related neurodevelopmental disorder

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    11,500 matched papers (4,321 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Intrauterine growth retardation; Short stature; Cognitive impairment) 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 trialPresent

    50 matched on ClinicalTrials.gov (13 recruiting in sample)

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)

32

Associated phenotypes · MONDO:0016011

  • Intrauterine growth retardation
  • Short stature
  • Cognitive impairment
  • Thin upper lip vermilion
  • Microdontia

Showing 5 of 32 — 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?

11,500

11,500 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,500 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).

4,321 in the last 10 years · low confidence

Phrase hits: 11,500 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

968

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Hoyme HE12 papers · 2026

    Sanford Health, Sioux Falls, South Dakota, USA.

    Papers in Europe PMC
  2. 02
    Kalberg WO10 papers · 2026

    Center on Alcohol, Substance Use and Addictions (CASAA), The University of New Mexico, Albuquerque, New Mexico, USA.

    Papers in Europe PMC
  3. 03
    May PA10 papers · 2026

    Department of Nutrition, Gillings School of Global Public Health, Nutrition Research Institute, University of North Carolina at Chapel Hill, Kannapolis, North Carolina, USA.

    Papers in Europe PMC
  4. 04
    Wozniak JR10 papers · 2026

    Department of Psychiatry & Behavioral Sciences, University of Minnesota, Minneapolis, Minnesota, USA.

    Papers in Europe PMC
  5. 05
    Buckley D9 papers · 2026

    Center on Alcohol, Substance Use and Addictions (CASAA), The University of New Mexico, Albuquerque, New Mexico, USA.

    Papers in Europe PMC
  6. 06
    Hasken JM8 papers · 2026

    Department of Nutrition, Gillings School of Global Public Health, Nutrition Research Institute, University of North Carolina at Chapel Hill, Kannapolis, North Carolina, USA.

    Papers in Europe PMC
  7. 07
    Marais AS8 papers · 2026

    Department of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa.

    Papers in Europe PMC
  8. 08
    Robinson LK8 papers · 2026

    Dysmorphology and Clinical Genetics, State University of New York at Buffalo, Buffalo, New York, USA.

    Papers in Europe PMC
  9. 09
    Seedat S8 papers · 2026

    Department of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa.

    Papers in Europe PMC
  10. 10
    Abdul-Rahman O7 papers · 2026

    Department of Pediatrics, New York- Presbyterian Weill Cornell Medicine, Columbia University, New York, New York, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

50

interventional trials for this specific condition

50 interventional trials matched this specific condition name; 13 currently recruiting in our sample.

Data as of 11 September 2026

50 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.1th percentile).

low confidence · 97.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

50 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 alcohol 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.

"Fetal alcohol syndrome" OR "Alcohol-related birth defects" OR "Alcohol-related neurodevelopmental disorder" OR "Fetal alcohol spectrum disorders"

Run this search on Europe PMC

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

"Fetal alcohol syndrome" OR "Alcohol-related birth defects" OR "Alcohol-related neurodevelopmental disorder" OR "Fetal alcohol spectrum disorders"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 50 interventional · 6 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

Synonyms dropped by stoplist: ARND; FAS; FASD; ARBD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 4 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (11500) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:29:41.810Z