Currarino syndrome
Currarino syndrome
An autosomal dominant condition (OMIM:176450) characterised by sacral agenesis, a presacral mass and anorectal malformation, variably accompanied by anterior meningocele or a presacral teratoma.Molecular pathology
Defects in MNX1/HLXB9, which encodes a nuclear transcription factor involved in pancreas development and function, cause Currarino syndrome.