Currarino syndrome

Currarino syndrome
Classification and external resources

An X-ray showing Imperforate anus
OMIM 176450
DiseasesDB 33509

The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, (2) there is a mass in the presacral space in front of the sacrum, and (3) there are malformations of the anus or rectum. It can also cause an anterior meningocele or a presacral teratoma.

Presacral teratoma usually is considered to be a variant of sacrococcygeal teratoma. However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind.[1]

Genetics

The disorder is an autosomal dominant genetic trait[2] caused by a mutation in the HLXB9 homeobox gene.

Currarino syndrome has an autosomal dominant pattern of inheritance

References

  1. ^ Gopal M, Turnpenny PD, Spicer R (June 2007). "Hereditary sacrococcygeal teratoma--not the same as its sporadic counterpart!". Eur J Pediatr Surg 17 (3): 214–6. doi:10.1055/s-2007-965121. PMID 17638164. 
  2. ^ Ashcraft KW, Holder TM (October 1974). "Hereditary presacral teratoma". J. Pediatr. Surg. 9 (5): 691–7. doi:10.1016/0022-3468(74)90107-9. PMID 4418917. http://linkinghub.elsevier.com/retrieve/pii/0022-3468(74)90107-9. 

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