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

Rare Disease

isotretinoin-like syndrome

MONDO:0009473

Also known as:Kawashima syndromemicrotia-aortic arch syndromeISOTRETINOIN embryopathy-like syndrome

Overview

Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.

GeneticsAutosomal recessive

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Cleft palate, Anotia, Microtia, and Abnormal posterior cranial fossa morphology and 3 more.

Organ System	Phenotype Count	Example Features
Head and neck	1	Cleft palate
Brain and nerves

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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-like syndrome.

3 publications have been identified in PubMed for isotretinoin-like syndrome. Research spans Case Report / Case Series (67%) and Clinical Trial Publication (33%).

Recent Publications

Guerrero-Cornejo S (2025). [PMID: 41236221](https://pubmed.ncbi.nlm.nih.gov/41236221/). *Dermatology practical & conceptual*. [Case Report / Case Series]
Shiraz ZK (2025). [PMID: 40236306](https://pubmed.ncbi.nlm.nih.gov/40236306/). *Clinical case reports*. [Case Report / Case Series]
Alshiyab D (2024). [PMID: 38793015](https://pubmed.ncbi.nlm.nih.gov/38793015/). *Medicina (Kaunas, Lithuania)*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:243440

Orphanet

European rare disease database

Orphanet:2306

GARD

Genetic and Rare Diseases Info Center

GARD:9675

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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isotretinoin-like syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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