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A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.
Biomarker and diagnostic research for EPHB4-related lymphatic-related hydrops fetalis has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for EPHB4-related lymphatic-related hydrops fetalis.
3 publications have been identified in PubMed for EPHB4-related lymphatic-related hydrops fetalis. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).
Brenner E (2025). [PMID: 41439975](https://pubmed.ncbi.nlm.nih.gov/41439975/). *Cells*. [Review / Meta-Analysis]
McNally BB (2025). [PMID: 40469463](https://pubmed.ncbi.nlm.nih.gov/40469463/). *ACG Case Rep J*. [Case Report / Case Series]
Wang H (2025). [PMID: 41317105](https://pubmed.ncbi.nlm.nih.gov/41317105/). *Mol Genet Genomic Med*. [Diagnostic / Biomarker]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about EPHB4-related lymphatic-related hydrops fetalis
AI-curated news mentioning EPHB4-related lymphatic-related hydrops fetalis
Updated Aug 24, 2026
A prospective cohort study highlights the incremental value of whole exome sequencing in improving diagnostic precision for non-immune hydrops fetalis. This research underscores the potential of advanced genetic testing in identifying underlying causes of this condition.