Currarino syndrome
MIM.176450 7q36
Definition: Currarino syndrome (CS) is a rare autosomal dominant (MNX1 germline mutations) 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 MNX1 (formerly HLXB9) (MIM.142994) at 7q36
- The MNX1 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 of MNX1 have been reported in patients fulfilling CS criteria.
- Mutation detection rate of MNX1 is about 50%, and reaches 90% in familial cases.
See also
sacrococcygeal teratoma
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#