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

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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 July 2024

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