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fetal hydantoin syndrome (FHS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal hydantoin syndrome

MONDO:0016008

Also known as:FHSfetal dihydantoin syndromefoetal dihydantoin syndrome

Overview

Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.

ResearchLimited published research (3 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 hydantoin syndrome.

3 publications have been identified in PubMed for fetal hydantoin syndrome. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Trimeche O (2025). [PMID: 39643432](https://pubmed.ncbi.nlm.nih.gov/39643432/). *Journal of medical genetics*. [Review / Meta-Analysis]
Durbin A (2025). [PMID: 39875206](https://pubmed.ncbi.nlm.nih.gov/39875206/). *Journal of intellectual disability research : JIDR*. [Epidemiology / Natural History]
Tribble JT (2025). [PMID: 40099172](https://pubmed.ncbi.nlm.nih.gov/40099172/). *JAAD case reports*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 1:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1912

GARD

Genetic and Rare Diseases Info Center

GARD:6435

Questions for Your Care Team

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fetal hydantoin 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