Currarino syndrome

Currarino syndrome is a condition where the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, there is a mass in the presacral space in front of sacrum, and there are malformations of the anus or rectum. The condition is an autosomal dominant genetic trait caused by a mutation in the HLXB9 homeobox gene.

Currarino syndrome may cause an anterior meningocele or presacral teratoma, or both.

• Online Mendelian Inheritance in Man (OMIM): Currarino syndrome

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