Orphanet: Hydrops lactic acidosis sideroblastic anemia multisystemic failure syndrome
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Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Disease definition

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.

ORPHA:528091

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 617021
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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