Currarino triad
Findings
No curated finding names Currarino triad yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).
Definition from the Mondo Disease Ontology (MONDO:0008305), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HemisacrumHPOHP:0009790
- 21 of 22 reported patients · Congenital onset
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the sacrumHPOHP:0008517
- Very frequent (80% to 99% of cases)
- Sacrococcygeal teratomaHPOHP:0030736
- Very frequent (80% to 99% of cases)
- Abdominal crampsHPOHP:0032155
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Frequent (30% to 79% of cases)
Show the remaining 20
- Bicornuate uterusHPOHP:0000813
- Occasional (5% to 29% of cases)
- Dermoid cystHPOHP:0025247
- Occasional (5% to 29% of cases)
- Epidermoid cystHPOHP:0200040
- Occasional (5% to 29% of cases)
- Horseshoe kidneyHPOHP:0000085
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- Mesenteric cystHPOHP:0030451
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MNX1HGNC:4979
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Currarino triad
- Also called
- Currarino syndrome