A congenital disorder that is characterized by partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation. Most patients do not present with all three anomalies, and sacral agenesis is the most prevalent. Perianal SEPSIS and CONSTIPATION frequently occur in affected individuals and severe UROGENITAL ABNORMALITIES may also be present. A mutation in the MNX1 gene has been identified in some cases. OMIM: 176450
