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Start free with EleplanEPHB4-related lymphatic-related hydrops fetalis
ORPHA:568065Disease
Also called EPHB4-related LRHF/GLD · EPHB4-related generalized lymphatic dysplasia with atrial septal defect · EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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