/EPHB4-related lymphatic-related hydrops fetalis

EPHB4-related lymphatic-related hydrops fetalis

Rare Disease

MONDO:0035475

Also Known As

EPHB4-related LRHF/GLDEPHB4-related generalised lymphatic dysplasia with atrial septal defectEPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalisEPHB4-related generalized lymphatic dysplasia with atrial septal defectEPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis

Definition

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.