Currarino syndrome

Pathology

• caused by dorsal-ventral patterning defects during embryonic development

Genetics

• autosomal dominant (most)
• associated with defects in MNX1

Clinical manifestations

• triad of
  • presacral tumor
  • sacral agenesis
  • anorectal malformation

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/176450