Currarino triad

Disease Overview

Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present.[11097][11098]

Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons.[11097][11098] Currarino triad is most often caused by mutations in the MNX1 gene.[11099] Treatment depends on the type and severity of abnormalities present, but may involve surgery.[11097][11098][11099]

Synonyms

• Currarino syndrome
• Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation