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PubMed This is a summary of 14 peer-reviewed journal articles Updated
Genetics

Genetics & Diagnosis: The MNX1 Gene and MRI

At a Glance

Currarino syndrome is primarily diagnosed through an MRI, which is the gold standard for detecting soft tissue anomalies like a tethered cord or presacral mass. Genetically, the condition is most often driven by a mutation in the MNX1 gene, though symptoms can vary widely.

Diagnosing Currarino syndrome (CS) requires looking past individual symptoms to find a specific pattern of physical and genetic markers. Because the syndrome affects multiple systems—the spine, the digestive tract, and the nervous system—doctors rely on advanced imaging and genetic analysis to confirm the diagnosis and distinguish it from other similar-looking conditions [1][2].

The Genetic Blueprint: The MNX1 Gene

The primary driver behind Currarino syndrome is a mutation in the MNX1 gene, located on chromosome 7q36 [2][3]. This gene provides instructions for making a protein that is critical for the early development of the lower body in an embryo.

  • Autosomal Dominant Inheritance: Only one copy of the mutated gene is needed for the syndrome to occur. This means an affected parent has a 50% chance of passing the condition to their child [3][4].
  • Variable Expressivity: This is one of the most challenging aspects of the syndrome. Even people with the exact same genetic mutation—including identical twins—can have vastly different symptoms [5][6]. One person may have the full “triad,” while another may only have a small bone abnormality with no symptoms at all [7][8].
  • Reduced Penetrance: Some people carry the mutation but show no signs of the syndrome whatsoever [7].
  • Genetic Heterogeneity: About 30% of “sporadic” cases (those with no family history) show an MNX1 mutation, but in other cases, the mutation might not be found [7]. In these instances, doctors may look for larger deletions in the same region of chromosome 7 [9][10].

Why MRI is the Gold Standard

While X-rays can show bone defects and CT scans can provide detailed bone maps, Magnetic Resonance Imaging (MRI) is the “gold standard” for Currarino syndrome [1][11].

An MRI is uniquely capable of showing the “soft tissues” that other scans might miss:

  • The Presacral Mass: It clearly defines whether a mass is a fluid-filled meningocele (connected to the spine) or a solid teratoma [2][1].
  • Spinal Cord Issues: It can detect a tethered cord, where the spinal cord is pulled tight and stuck to the surrounding bone or mass, which can cause nerve damage if not managed [1][12].
  • Fistulas: It helps identify abnormal tunnels (fistulas) that might connect the rectum to the spinal canal, which are major risk factors for infection [1][13].

Distinguishing Currarino from Other Conditions

Because Currarino syndrome involves common birth defects, it is sometimes confused with other conditions during initial diagnosis:

Condition Comparison to Currarino Syndrome
VACTERL Association A group of defects that includes anorectal issues, but lacks the specific “scimitar” sacrum and presacral mass of CS [10][2].
Caudal Regression Involves more extensive loss of the lower spine; CS is considered a specific, partial form of this spectrum [14][12].
Isolated Teratoma A growth at the base of the spine that occurs without the accompanying sacral defect or anorectal narrowing seen in CS [2][4].

Understanding these differences is vital because Currarino syndrome requires a specific, multidisciplinary approach to prevent complications. For information on how these structural issues are managed, proceed to Surgical Strategy & Building Your Care Team.

Common questions in this guide

What is the MNX1 gene and how does it relate to Currarino syndrome?
The MNX1 gene provides instructions for the early development of the lower body in an embryo. A mutation in this gene is the primary genetic cause of Currarino syndrome. Because it is an autosomal dominant condition, only one copy of the mutated gene is needed to cause the syndrome.
Why is an MRI the best scan for diagnosing Currarino syndrome?
An MRI is the gold standard for diagnosing Currarino syndrome because it shows soft tissues that X-rays or CT scans might miss. It can clearly identify a presacral mass, detect if the spinal cord is tethered, and spot abnormal connections like fistulas between the rectum and the spine.
What if I have the MNX1 gene mutation but no symptoms?
This is a genetic concept known as reduced penetrance. Some people who carry the MNX1 mutation show absolutely no signs of the syndrome. Even within the same family, individuals with the exact same genetic mutation can have vastly different symptoms or no symptoms at all.
How do doctors tell the difference between Currarino syndrome and VACTERL association?
While both conditions can involve anorectal issues, Currarino syndrome has specific markers like a 'scimitar' shaped sacrum and a presacral mass. VACTERL association typically lacks these distinct spinal and presacral features, allowing doctors to distinguish between them using an MRI.
What happens if the MNX1 genetic test is negative but symptoms are present?
In some cases with no family history, an MNX1 mutation might not be found. If the initial test is negative, doctors may look for larger genetic deletions in the same region of chromosome 7 or explore other similar conditions to confirm the diagnosis.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.If we test for the MNX1 mutation and it's negative, what are the next steps for genetic investigation?
  2. 2.Can you explain how the MRI findings help distinguish Currarino syndrome from something like VACTERL association or caudal regression?
  3. 3.Does the MRI show a tethered cord or any connection (fistula) between the rectum and the spine?
  4. 4.How does 'variable expressivity' explain why my child has severe symptoms while other family members do not?
  5. 5.Which specialists will review the MRI results to ensure we have a complete picture of the spinal and anorectal anatomy?

Questions For You

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References

References (14)
  1. 1

    Atypical presentation of currarino syndrome: A case report.

    Hage P, Kseib C, Adem C, et al.

    International journal of surgery case reports 2019; (57()):102-105 doi:10.1016/j.ijscr.2019.02.047.

    PMID: 30933899
  2. 2

    Peripartum Diagnosis of Currarino Syndrome With Anterior Sacral Meningocele: A Case Report.

    Neumann KE, Pappas H, McCrory EH

    A&A practice 2021; (15(8)):e01506 doi:10.1213/XAA.0000000000001506.

    PMID: 34347635
  3. 3

    Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.

    El Amrani Z, Natiq A, Sbiti A, et al.

    Molecular syndromology 2024; (15(2)):125-129 doi:10.1159/000534432.

    PMID: 38585544
  4. 4

    Sacrum agenesis and scimitar sacrum in Currarino syndrome.

    Corrêa DG, Daltro PA

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(7)):1337-1338 doi:10.1007/s00381-020-04653-z.

    PMID: 32447453
  5. 5

    Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

    Wang X, Min L, Bao L, et al.

    Congenital anomalies 2026; (66(1)):e70046 doi:10.1002/cga.70046.

    PMID: 41871837
  6. 6

    MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra-pancreatic congenital defects presenting in severe diabetic ketoacidosis.

    Aly HH, De Franco E, Flanagan SE, Elhenawy YI

    Journal of diabetes investigation 2023; (14(4)):516-521 doi:10.1111/jdi.13968.

    PMID: 36586106
  7. 7

    The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.

    Romano F, De Marco P, Ognibene M, et al.

    Birth defects research 2021; (113(15)):1161-1165 doi:10.1002/bdr2.1936.

    PMID: 34156759
  8. 8

    Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.

    Costanzo S, Spaccini L, Pio L, et al.

    Journal of pediatric surgery 2017; (52(10)):1591-1596 doi:10.1016/j.jpedsurg.2017.06.012.

    PMID: 28689883
  9. 9

    Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report.

    Jung JH, Jeong J, Kim SH

    Journal of Yeungnam medical science 2026; (43()):8 doi:10.12701/jyms.2026.43.8.

    PMID: 41486773
  10. 10

    Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9.

    Bevanda K, Memidžan I, Boban-Raguž A

    Radiology case reports 2020; (15(8)):1184-1188 doi:10.1016/j.radcr.2020.05.023.

    PMID: 32550955
  11. 11

    A case of Currarino syndrome in an adult female presenting with refractory chronic constipation.

    Rojo Aldama E, Miranda García P, García Septiem J

    Revista espanola de enfermedades digestivas 2021; (113(1)):73-74 doi:10.17235/reed.2020.7096/2020.

    PMID: 33207905
  12. 12

    Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

    Chen J, Zheng N, Wang C, et al.

    Annals of translational medicine 2022; (10(2)):63 doi:10.21037/atm-21-6572.

    PMID: 35282111
  13. 13

    Naked sacrococcygeal teratoma associated with dorsal meningocoele and sacrococcygeal inversion: an atypical presentation of Currarino syndrome.

    Datta D, Wilson N, McAuley D

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2025; (41(1)):276 doi:10.1007/s00381-025-06911-4.

    PMID: 40936035
  14. 14

    Clinical and radiological evaluation of caudal regression syndrome.

    Krishnan V, Jaganathan S, Jayappa S, et al.

    Pediatric radiology 2024; (54(9)):1451-1461 doi:10.1007/s00247-024-05945-1.

    PMID: 38750326

This page provides educational information about Currarino syndrome genetics and imaging. Always consult your geneticist or pediatric specialist to interpret specific MRI or MNX1 gene testing results.

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