Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

Abstract Background The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein. Main body In...

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Bibliographic Details
Main Authors: Gabriel C. Dworschak, Heiko M. Reutter, Michael Ludwig
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-021-01799-0