EPHB4-related lymphatic-related hydrops fetalis
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.
MONDO:0019175
primary lymphedema
is_a
EPHB4-related LRHF/GLD
exact
EPHB4-related generalised lymphatic dysplasia with atrial septal defect
exact
EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis
exact
EPHB4-related generalized lymphatic dysplasia with atrial septal defect
exact
EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis
exact