PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

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PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

Synonyms: Generalized lymphatic dysplasia of Fotiou | PIEZO1-related LRHF/GLD | PIEZO1-related generalized lymphatic dysplasia with systemic involvement | PIEZO1-related lymphatic-related hydrops fetalis

A rare genetic primary lymphedema characterized by uniform widespread lymphedema often with systemic involvement such as intestinal and pulmonary lymphangiectasia pleural and pericardial effusions and chylothorax. There is a high incidence of non-immune hydrops fetalis which may result in fetal demise or fully resolve after birth. Severe recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported while intelligence is normal and seizures are absent.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Project FAVA

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

Clinical Trials

For a list of clinical trials in this disease area, please click here.