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isotretinoin syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isotretinoin syndrome

MONDO:0016467

Also known as:Fetal Retinoid SyndromeIsotretinoin embryopathyRetinoids embryopathy

Overview

Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of 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 malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.

ResearchLimited published research (6 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isotretinoin syndrome.

6 publications have been identified in PubMed for isotretinoin syndrome. Research spans Epidemiology / Natural History (33%), Other (17%), and Review / Meta-Analysis (17%).

Recent Publications

Muhammed Kutty S (2026). [PMID: 41762006](https://pubmed.ncbi.nlm.nih.gov/41762006/). *Indian Dermatol Online J*. [Review / Meta-Analysis]
Guerrero-Cornejo S (2025). [PMID: 41236221](https://pubmed.ncbi.nlm.nih.gov/41236221/). *Dermatol Pract Concept*. [Other]
Shiraz ZK (2025). [PMID: 40236306](https://pubmed.ncbi.nlm.nih.gov/40236306/). *Clin Case Rep*. [Case Report / Case Series]
Hashimoto AS (2025). [PMID: 40519748](https://pubmed.ncbi.nlm.nih.gov/40519748/). *Genet Med Open*. [Basic Science / Preclinical]
Wei Y (2024). [PMID: 38523015](https://pubmed.ncbi.nlm.nih.gov/38523015/). *Pediatr Neonatol*. [Epidemiology / Natural History]
Vieiros M (2024). [PMID: 38886650](https://pubmed.ncbi.nlm.nih.gov/38886650/). *BMC Genomics*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 12:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2305

GARD

Genetic and Rare Diseases Info Center

GARD:18765

Questions for Your Care Team

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isotretinoin syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team