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familial omphalocele syndrome with facial dysmorphism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial omphalocele syndrome with facial dysmorphism

MONDO:0017235

Overview

Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.

ResearchLimited published research (5 articles)

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 familial omphalocele syndrome with facial dysmorphism.

5 publications have been identified in PubMed for familial omphalocele syndrome with facial dysmorphism. Research spans Case Report / Case Series (80%) and Review / Meta-Analysis (20%).

Recent Publications

Schwarz M (2026). [PMID: 40884164](https://pubmed.ncbi.nlm.nih.gov/40884164/). *Clin Genet*. [Case Report / Case Series]
Taifour W (2025). [PMID: 40697904](https://pubmed.ncbi.nlm.nih.gov/40697904/). *Int Med Case Rep J*. [Case Report / Case Series]
Pan YT (2025). [PMID: 40049825](https://pubmed.ncbi.nlm.nih.gov/40049825/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Varlas VN (2024). [PMID: 39061616](https://pubmed.ncbi.nlm.nih.gov/39061616/). *Diagnostics (Basel)*. [Review / Meta-Analysis]
Feresin A (2024). [PMID: 39766333](https://pubmed.ncbi.nlm.nih.gov/39766333/). *Biomolecules*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:280403

GARD

Genetic and Rare Diseases Info Center

GARD:21086

Questions for Your Care Team

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familial omphalocele syndrome with facial dysmorphism

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team