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Currarino syndrome

MIM.176450 7q36

Wednesday 8 December 2004

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.


- presacral teratoma
- sacral defect
- anal malformations

- vascular anomalies

  • primitive sciatic artery
  • arteriovenous shunting

- sacral meningomyelocele
- tethered spinal cord (fixed filum terminale)
- hydrocephalus

- genito-urinary anomalies


- 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


- 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