Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
A rare mitochondrial disease characterized by prenatal complications including oligohydramnios fetal growth restriction hydrops and anemia followed by severe lactic acidosis hyaline membrane disease pulmonary hypertension cardiac anomalies liver dysfunction urogenital abnormalities and progressive renal disease seizures thrombocytopenia and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.
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 March 2024
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