Definition: Currarino syndrome (CS) is a rare autosomal dominant malformative syndrome described in 1981 as the association of three main features: typical sacral malformation (sickle-shaped sacrum or total sacral agenesis below S2), hindgut anomaly, and presacral tumor. In addition to the triad, tethered cord and/or lipoma of the conus are also frequent and must be sought, as they may lead to severe complications if not treated.
Synopsis
presacral teratoma
sacral defect
anal malformations
- anal stenosis
- imperforate anus
- anal canal duplication (12720188)
vascular anomalies
- primitive sciatic artery
- arteriovenous shunting
sacral meningomyelocele
tethered spinal cord (fixed filum terminale)
hydrocephalus
genito-urinary anomalies
- ambiguous genitalia
- duplex ureter
- hydronephrosis
- vesicoureteral reflux
- neurogenic bladder
- bicornuate uterus
- rectovaginal fistula
Etiology
germline mutation in the homeobox gene HLXB9 (MIM.142994)in some cases.
- The HLXB9 gene, located at 7q36, is disease-causing. It encodes the HB9 transcription factor and interacts with DNA through a highly evolutionarily conserved homeodomain early in embryological development.
- In 2008, 43 different heterozygous mutations have been reported in patients fulfilling CS criteria. Mutation detection rate is about 50%, and reaches 90% in familial cases.
See also
sacrococcygeal anomalies
caudal regression syndromes
References
Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat. 2008 Apr 30. PMID: 18449898
Crétolle C, Sarnacki S, Amiel J, Geneviève D, Encha-Razavi F, Zrelli S, Zérah M, Nihoul Fékété C, Lyonnet S. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism.Am J Med Genet A. 2007 Apr 15;143(8):871-4. PMID: 17352395