Fetal alcohol syndrome
diseaseOn this page
Also known as alcohol-related neurodevelopmental disorderARBDARNDFASFASDfetal alcohol spectrum disordersfoetal alcohol spectrum disorders
Summary
Fetal alcohol syndrome (MONDO:0016011) is a disease and 55 clinical trials. Top therapeutic interventions include atomoxetine, methylphenidate, and choline. A subtype of fetal alcohol spectrum disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: >1 / 1000 (South Africa) [Orphanet-validated]
- Phenotypes (HPO): 32
- Clinical trials: 55
Clinical features
Epidemiology
Prevalence records
15 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Europe | Validated |
| Point prevalence | >1 / 1000 | 6800 | South Africa | Validated |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Austria | Validated |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Belgium | Validated |
| Prevalence at birth | 1-5 / 10 000 | 14.8 | Germany | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Hungary | Validated |
| Prevalence at birth | 1-9 / 100 000 | 8.1 | Ireland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Italy | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Norway | Validated |
| Prevalence at birth | 1-5 / 10 000 | 13.2 | Switzerland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | United Kingdom | Validated |
| Prevalence at birth | 1-5 / 10 000 | 13.6 | France | Validated |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Poland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Spain | Validated |
| Prevalence at birth | 6-9 / 10 000 | 80.8 | Ukraine | Validated |
Signs & symptoms
Clinical features (HPO)
32 HPO clinical features (Orphanet curated; top 32 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0001328 | Specific learning disability | Very frequent (80-99%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (80-99%) |
| HP:0004322 | Short stature | Very frequent (80-99%) |
| HP:0100543 | Cognitive impairment | Very frequent (80-99%) |
| HP:0000252 | Microcephaly | Very frequent (80-99%) |
| HP:0000275 | Narrow face | Very frequent (80-99%) |
| HP:0000506 | Telecanthus | Very frequent (80-99%) |
| HP:0000708 | Atypical behavior | Very frequent (80-99%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (30-79%) |
| HP:0000286 | Epicanthus | Frequent (30-79%) |
| HP:0000319 | Smooth philtrum | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0000463 | Anteverted nares | Frequent (30-79%) |
| HP:0000486 | Strabismus | Frequent (30-79%) |
| HP:0000508 | Ptosis | Frequent (30-79%) |
| HP:0000568 | Microphthalmia | Frequent (30-79%) |
| HP:0000691 | Microdontia | Frequent (30-79%) |
| HP:0001387 | Joint stiffness | Frequent (30-79%) |
| HP:0001631 | Atrial septal defect | Frequent (30-79%) |
| HP:0003196 | Short nose | Frequent (30-79%) |
| HP:0003422 | Vertebral segmentation defect | Frequent (30-79%) |
| HP:0004422 | Biparietal narrowing | Frequent (30-79%) |
| HP:0007477 | Abnormal dermatoglyphics | Frequent (30-79%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (30-79%) |
| HP:0100335 | Non-midline cleft of the upper lip | Frequent (30-79%) |
| HP:0100761 | Visceral angiomatosis | Frequent (30-79%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (30-79%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (5-29%) |
| HP:0002230 | Generalized hirsutism | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | fetal alcohol syndrome |
| Mondo ID | MONDO:0016011 |
| Orphanet | 1915 |
| DOID | DOID:0050665, DOID:0050667 |
| ICD-10-CM | Q86.0 |
| ICD-11 | 362980699 |
| NCIT | C84713 |
| SNOMED CT | 205788004 |
| UMLS | C0015923 |
| MedGen | 8820 |
| MedDRA | 10016845 |
| Is cancer (heuristic) | no |
Also known as: alcohol-related neurodevelopmental disorder · ARBD · ARND · FAS · FASD · fetal alcohol spectrum disorders · foetal alcohol spectrum disorders
Disease family
This is a subtype of fetal alcohol spectrum disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › specific developmental disorder › fetal alcohol spectrum disorder › fetal alcohol syndrome
Related subtypes (3): partial fetal alcohol syndrome, alcohol-related birth defect, neurobehavioral disorder with prenatal alcohol exposure
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 55.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 41 |
| PHASE1/PHASE2 | 4 |
| PHASE2 | 4 |
| PHASE3 | 2 |
| PHASE1 | 2 |
| PHASE4 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04968522 | PHASE4 | UNKNOWN | FASST - Fetal Alcohol Spectrum Stimulant Trial |
| NCT00418262 | PHASE3 | COMPLETED | Open-Label Study of the Long Term Tolerability and Safety of Atomoxetine in Children With FASD and ADD/ADHD |
| NCT00996528 | PHASE3 | UNKNOWN | Neighborhood Alcohol & HIV Prevention in South African Townships (Philani) |
| NCT04395196 | PHASE2 | RECRUITING | RCT of Prenatal Choline Supplementation During Pregnancy to Mitigate Adverse Effects of Prenatal Alcohol Exposure |
| NCT05108974 | PHASE2 | ACTIVE_NOT_RECRUITING | Choline Supplementation as a Neurodevelopmental Intervention in Fetal Alcohol Spectrum Disorders Study |
| NCT00164229 | PHASE1/PHASE2 | COMPLETED | Fetal Alcohol Syndrome: Socio-Cognitive Habilitation |
| NCT00164346 | PHASE1/PHASE2 | COMPLETED | Neurocognitive Habilitation for Children With Fetal Alcohol Syndrome (FAS)/Alcohol-Related Neurodevelopmental Disorder (ARND) |
| NCT00164554 | PHASE1/PHASE2 | COMPLETED | Fetal Alcohol Syndrome/ARND Research Consortion |
| NCT01149538 | PHASE1/PHASE2 | COMPLETED | Postnatal Choline Supplementation in Children With Prenatal Alcohol Exposure |
| NCT01911299 | PHASE2 | COMPLETED | Choline Supplementation in Children With Fetal Alcohol Spectrum Disorders |
| NCT02735473 | PHASE2 | COMPLETED | Choline Supplementation as a Neurodevelopmental Intervention in Fetal Alcohol Spectrum Disorders |
| NCT06635746 | PHASE1 | NOT_YET_RECRUITING | Dose Escalation Study of Vinpocetine in Healthy Volunteers |
| NCT00417794 | PHASE1 | COMPLETED | Assess the Effectiveness of Atomoxetine in Children With Fetal Alcohol Syndrome and ADD/ADHD |
| NCT00747630 | EARLY_PHASE1 | TERMINATED | Evaluating the Efficacy of a Video Based Intervention to Educate Teen Moms About Fetal Alcohol Syndrome (FAS) |
| NCT03371641 | Not specified | RECRUITING | In Utero Alcoholic Exposure: PlGF, Biomarker of Fetal Brain Lesions |
| NCT05456321 | Not specified | RECRUITING | CIFASD 5 tDCS and Cognitive Training |
| NCT05534568 | Not specified | RECRUITING | The Oklahoma Parent-Child Assistance Program |
| NCT05686473 | Not specified | RECRUITING | Psychoeducation of Parents to Children With FASD |
| NCT05960461 | Not specified | RECRUITING | Families Moving Forward (FMF) Connect Pro for Mental Health Providers |
| NCT06005181 | Not specified | RECRUITING | The Synchrony Study: Examining Music Training for Children With FASD |
| NCT06638463 | Not specified | RECRUITING | My Health Coach App RCT |
| NCT06847165 | Not specified | RECRUITING | Trigeminal Nerve Stimulation for Children With Prenatal Alcohol Exposure |
| NCT06935461 | Not specified | ENROLLING_BY_INVITATION | Families Moving Forward Bridges: An Early Intervention for Infants and Toddlers With PAE With or At-risk for FASD |
| NCT07016009 | Not specified | RECRUITING | Thrive Person-Centered Planning Program for Young Adults With Fetal Alcohol Spectrum Disorders |
| NCT07547696 | Not specified | NOT_YET_RECRUITING | CARRII Native Intervention Optimization Trial |
| NCT00244062 | Not specified | COMPLETED | Healthy Moms Alcohol Intervention |
| NCT00696085 | Not specified | COMPLETED | Fetal Alcohol Damage Prevention Study |
| NCT01961050 | Not specified | COMPLETED | Preventing FAS/ARND in Russian Children |
| NCT01971398 | Not specified | COMPLETED | Development of Education Materials for Prevention of FAS in Russia |
| NCT01994603 | Not specified | COMPLETED | Expansion to Interdisciplinary HIV Prevention in Women |
| NCT02128880 | Not specified | COMPLETED | Contraception and Alcohol Risk Reduction Internet Intervention Randomized Trial |
| NCT02457676 | Not specified | COMPLETED | Improving Self Regulation in Children With Fetal Alcohol Syndrome Spectrum Disorders: A Neuroplastic Intervention |
| NCT02558933 | Not specified | COMPLETED | Epigallocatechin Gallate (EGCG) to Improve Cognitive Performance in Foetal Alcohol Syndrome (FAS) Children |
| NCT02600624 | Not specified | COMPLETED | Prenatal Alcohol Biomarker Study in Uruguay |
| NCT03342495 | Not specified | COMPLETED | Evaluating Innovations in Transition From Pediatric to Adult Care - The Transition Navigator Trial |
| NCT03361293 | Not specified | COMPLETED | Cognitive Training and tDCS for Children With FASD |
| NCT03494738 | Not specified | UNKNOWN | Development of an Epigenetic Biomarker for Prediction of Fetal Alcohol Spectrum Disorder |
| NCT03524664 | Not specified | COMPLETED | A Study of Parent and Child Emotions in Fetal Alcohol Spectrum Disorder (FASD) |
| NCT03782935 | Not specified | COMPLETED | Nutritional Risk Factors for FASD in Ukraine |
| NCT03852550 | Not specified | TERMINATED | READYorNot[TM] Brain-Based Disabilities Trial |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ATOMOXETINE | 4 | 3 |
| METHYLPHENIDATE | 4 | 3 |
| CHOLINE | 4 | 1 |
| DEXTROAMPHETAMINE SULFATE | 4 | 1 |
| NICOTINE POLACRILEX | 4 | 1 |
| VINPOCETINE | 4 | 1 |
| CHOLINE BITARTRATE | 3 | 4 |
| EPIGALOCATECHIN GALLATE | 3 | 1 |
| CHEMBL1360725 | 0 | 1 |