Currarino Syndrome: A Comprehensive Review of Clinical Features, Genetic Basis, Diagnosis, and Management

Abstract

Currarino Syndrome (CS) is a rare congenital disorder characterized by a distinct clinical triad of anorectal malformations, sacral anomalies, and presacral masses. It is primarily caused by mutations in the MNX1 gene, located on chromosome 7, which encodes a transcription factor crucial for the development of the sacral region and anorectal structures during embryogenesis. Mutations in MNX1 lead to defects in these regions, resulting in the hallmark features of CS. The condition follows an autosomal dominant inheritance pattern, and while the severity of the symptoms varies, the disease can manifest with a wide spectrum of clinical presentations, from mild features to more severe cases requiring extensive surgical intervention. Despite its genetic basis, other unidentified genetic factors may contribute to the disease, suggesting a complex etiology. Diagnosis of CS relies heavily on imaging techniques such as radiographs, magnetic resonance imaging (MRI), and computed tomography (CT), which are crucial for identifying sacral malformations and presacral masses. Genetic testing for MNX1 mutations plays a pivotal role in confirming the diagnosis, especially in cases with atypical features. Management of CS is multidisciplinary, involving surgical interventions to correct anorectal malformations and excise presacral masses, along with long-term follow-up for potential complications. Genetic counseling is also essential for families, as it helps them understand the inheritance pattern, recurrence risks, and reproductive options. Despite progress, further research is needed to explore other genetic contributors and improve diagnostic and therapeutic strategies for CS.