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Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

Disease definition

A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.

ORPHA:500135

Classification level: Disorder
  • Synonym(s):
    • MARCH syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: -
  • OMIM: 236500
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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