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

Abstract excerpt

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 the majority of patients, CS occurs as an autosomal dominant trait; however, a female predominance observed, implies that...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Ear and Nasal Anomalies
• Share to Congenital gastrointestinal and neural anomalies
• Share to Ocular Disorders and Treatments