Currarino syndrome

Definition:

Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the syndrome.

References:

[1]. C Crétolle, et al. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat. 2008 Jul;29(7):903-10. [Content Brief]

[2]. D M Hagan, et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet. 2000 May;66(5):1504-15. [Content Brief]

[3]. G Currarino, et al. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 1981 Aug;137(2):395-8. [Content Brief]

[4]. J Köchling, et al. The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature. Eur J Pediatr Surg. 1996 Apr;6(2):114-9. [Content Brief]

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