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fetal carbamazepine syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal carbamazepine syndrome

MONDO:0018263

Overview

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.

ResearchLimited published research (4 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 fetal carbamazepine syndrome.

4 publications have been identified in PubMed for fetal carbamazepine syndrome. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Sheehy O (2026). [PMID: 41311311](https://pubmed.ncbi.nlm.nih.gov/41311311/). *Ann Neurol*. [Epidemiology / Natural History]
Ji Z (2025). [PMID: 40078296](https://pubmed.ncbi.nlm.nih.gov/40078296/). *Front Pharmacol*. [Epidemiology / Natural History]
De Bellis M (2025). [PMID: 40709084](https://pubmed.ncbi.nlm.nih.gov/40709084/). *Front Pharmacol*. [Review / Meta-Analysis]
Vigod SN (2025). [PMID: 39936923](https://pubmed.ncbi.nlm.nih.gov/39936923/). *Can J Psychiatry*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:370076

GARD

Genetic and Rare Diseases Info Center

GARD:21595

Questions for Your Care Team

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fetal carbamazepine 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