EPHB4-related lymphatic-related hydrops fetalis

MONDO:0035475

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.

Also known as: EPHB4-related LRHF/GLD, EPHB4-related generalised lymphatic dysplasia with atrial septal defect, EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis, EPHB4-related generalized lymphatic dysplasia with atrial septal defect, EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis

8 clinical trials for this condition and its sub-types.

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