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

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

Synonyms: MARCH syndrome

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.

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 May 2024

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