EPHB4-related lymphatic-related hydrops fetalis
Synonyms: EPHB4-related LRHF/GLD | EPHB4-related generalized lymphatic dysplasia with atrial septal defect | EPHB4-related generalized lymphatic dysplasia with non-immune 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
EPHB4-related lymphatic-related hydrops fetalis?
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
For a list of clinical trials in this disease area, please click here.