Currarino syndrome
| Currarino syndrome | |
|---|---|
| Classification and external resources | |
 An X-ray showing Imperforate anus |
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| 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 [edit]
The disorder is an autosomal dominant genetic trait[2] caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was showed that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis. The study was published on the American Journal of Human Genetics [3]
References [edit]
- ^ 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.
- ^ 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.
- ^ Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. (2000 Jan)."Involvement of the HLXB9 homeobox gene in Currarino Syndrome".Am J Hum Genet.66(1):312-9
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