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Currarino triad

MedGen UID:
323460
Concept ID:
C1531773
Disease or Syndrome
Synonyms: Currarino Syndrome; Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
SNOMED CT: Currarino triad (413936007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): MNX1 (7q36.3)
 
Monarch Initiative: MONDO:0008305
OMIM®: 176450
Orphanet: ORPHA1552

Definition

The Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic (summary by Wang et al., 2006). [from OMIM]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Presacral teratoma
MedGen UID:
1647319
Concept ID:
C4551654
Neoplastic Process
A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).
Neurogenic bladder
MedGen UID:
595
Concept ID:
C0005697
Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Vesicoureteral reflux
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Septate vagina
MedGen UID:
82741
Concept ID:
C0266411
Congenital Abnormality
The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Perianal abscess
MedGen UID:
14677
Concept ID:
C0031019
Disease or Syndrome
The presence of an abscess located around the anus.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Anal fistula
MedGen UID:
61482
Concept ID:
C0205929
Finding
An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
Gastrointestinal obstruction
MedGen UID:
66735
Concept ID:
C0236124
Disease or Syndrome
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Anatomical Abnormality
Abnormal narrowing of the anal opening.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Tethered cord
MedGen UID:
36387
Concept ID:
C0080218
Disease or Syndrome
During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absence of the sacrum
MedGen UID:
83373
Concept ID:
C0344490
Congenital Abnormality
Absence (aplasia) of the sacrum.
Anterior sacral meningocele
MedGen UID:
401299
Concept ID:
C1867776
Finding
Hemisacrum
MedGen UID:
383153
Concept ID:
C2677632
Anatomical Abnormality
A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.
Bifid sacrum
MedGen UID:
869775
Concept ID:
C4024204
Congenital Abnormality
Presence of a bifid sacral bone.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCurrarino triad
Follow this link to review classifications for Currarino triad in Orphanet.

Professional guidelines

PubMed

Han L, Zhang Z, Wang H, Song H, Gao Q, Yan Y, Tao R, Xiao P, Li L, Jiang Q, Li Q
Orphanet J Rare Dis 2020 Jun 22;15(1):155. doi: 10.1186/s13023-020-01442-4. PMID: 32571425Free PMC Article
Dias M, Partington M; SECTION ON NEUROLOGIC SURGERY
Pediatrics 2015 Oct;136(4):e1105-19. doi: 10.1542/peds.2015-2854. PMID: 26416933

Recent clinical studies

Etiology

Ferreira C, Santos AP, Fonseca J
J Matern Fetal Neonatal Med 2022 Dec;35(25):5224-5226. Epub 2021 Feb 22 doi: 10.1080/14767058.2021.1876021. PMID: 33618589
Sakurai T, Nakamura M, Endo N
Pediatr Surg Int 2021 Dec;37(12):1773-1781. Epub 2021 Aug 30 doi: 10.1007/s00383-021-04984-1. PMID: 34462793
Li Q, Zhang Z, Jiang Q, Yan Y, Xiao P, Ma Y, Li L
J Laparoendosc Adv Surg Tech A 2020 Jul;30(7):826-833. Epub 2020 Apr 17 doi: 10.1089/lap.2019.0779. PMID: 32302513
AbouZeid AA, Mohammad SA, Abolfotoh M, Radwan AB, Ismail MME, Hassan TA
J Pediatr Surg 2017 Aug;52(8):1260-1268. Epub 2016 Dec 27 doi: 10.1016/j.jpedsurg.2016.12.010. PMID: 28065719
Merello E, De Marco P, Ravegnani M, Riccipetitoni G, Cama A, Capra V
Eur J Med Genet 2013 Dec;56(12):648-54. Epub 2013 Oct 3 doi: 10.1016/j.ejmg.2013.09.011. PMID: 24095820

Diagnosis

Baalaan KP, Gurunathan N
Pan Afr Med J 2022;41:143. Epub 2022 Feb 17 doi: 10.11604/pamj.2022.41.143.33419. PMID: 35519164Free PMC Article
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Ferreira C, Santos AP, Fonseca J
J Matern Fetal Neonatal Med 2022 Dec;35(25):5224-5226. Epub 2021 Feb 22 doi: 10.1080/14767058.2021.1876021. PMID: 33618589
Magudia K, Menias CO, Bhalla S, Katabathina VS, Craig JW, Hammer MM
Radiographics 2019 Jul-Aug;39(4):1019-1035. Epub 2019 May 24 doi: 10.1148/rg.2019180050. PMID: 31125295
Caro-Domínguez P, Bass J, Hurteau-Miller J
Can Assoc Radiol J 2017 Feb;68(1):90-95. Epub 2016 Nov 22 doi: 10.1016/j.carj.2016.05.007. PMID: 27887934

Therapy

Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Jeltema HR, Broens PMA, Brouwer OF, Groen RJM
Childs Nerv Syst 2019 Jul;35(7):1129-1136. Epub 2019 Apr 9 doi: 10.1007/s00381-019-04138-8. PMID: 30968178
Kasem AJ, Pottker T
Pediatr Emerg Care 2013 Jul;29(7):836-7. doi: 10.1097/PEC.0b013e3182989c9d. PMID: 23823266
Tander B, Baskin D, Bulut M
Pediatr Surg Int 1999 Jul;15(5-6):409-10. doi: 10.1007/s003830050615. PMID: 10415302

Prognosis

Sakurai T, Nakamura M, Endo N
Pediatr Surg Int 2021 Dec;37(12):1773-1781. Epub 2021 Aug 30 doi: 10.1007/s00383-021-04984-1. PMID: 34462793
Halleran DR, Vilanova-Sanchez A, Reck CA, Maloof T, Weaver L, Stanek J, Levitt MA, Wood RJ, Aldrink JH
J Pediatr Surg 2019 Jul;54(7):1372-1378. Epub 2018 Dec 13 doi: 10.1016/j.jpedsurg.2018.11.009. PMID: 30630596
Costanzo S, Spaccini L, Pio L, Mattioli G, Virgone C, Dall'Igna P, Iacobelli B, Inserra A, Brisighelli G, Fagnani AM, Leva E, Giannotti G, Cheli M, Frumento P, Riccipetitoni G
J Pediatr Surg 2017 Oct;52(10):1591-1596. Epub 2017 Jun 24 doi: 10.1016/j.jpedsurg.2017.06.012. PMID: 28689883
AbouZeid AA, Mohammad SA, Abolfotoh M, Radwan AB, Ismail MME, Hassan TA
J Pediatr Surg 2017 Aug;52(8):1260-1268. Epub 2016 Dec 27 doi: 10.1016/j.jpedsurg.2016.12.010. PMID: 28065719
Isik N, Elmaci I, Gokben B, Balak N, Tosyali N
Pediatr Neurosurg 2010 Aug;46(2):110-9. Epub 2010 Jul 20 doi: 10.1159/000319007. PMID: 20664237

Clinical prediction guides

Pang W, Chen Y, Wang K, Zhang D, Qi X, Wu D
Pediatr Surg Int 2023 Jan 6;39(1):72. doi: 10.1007/s00383-022-05345-2. PMID: 36607405
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Lee S, Kim EJ, Cho SI, Park H, Seo SH, Seong MW, Park SS, Jung SE, Lee SC, Park KW, Kim HY
Ann Lab Med 2018 May;38(3):242-248. doi: 10.3343/alm.2018.38.3.242. PMID: 29401559Free PMC Article
Berghauser Pont LM, Dirven CM, Dammers R
Eur Spine J 2012 Jun;21 Suppl 4(Suppl 4):S569-72. Epub 2012 Apr 24 doi: 10.1007/s00586-012-2311-2. PMID: 22526704Free PMC Article
Haga Y, Cho H, Shinoda S, Masuzawa T
Neurol Med Chir (Tokyo) 2003 Oct;43(10):505-8. doi: 10.2176/nmc.43.505. PMID: 14620204

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