Currarino triad

General Information (adopted from Orphanet):

Synonyms, Signs: CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED
SCRA1, INCLUDED
SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED
Currarino syndrome
Number of Symptoms 40
OrphanetNr: 1552
OMIM Id: 176450
ICD-10: Q42
UMLs: C1531773
MeSH: C536221
MedDRA:
Snomed: 413936007

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic uterovaginal malformation
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0009793) Presacral teratoma 1 / 7739
2
(HPO:0001153) Septate vagina 6 / 7739
3
(HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
4
(HPO:0000020) Urinary incontinence 75 / 7739
5
(HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
6
(HPO:0000076) Vesicoureteral reflux 94 / 7739
7
(HPO:0000813) Bicornuate uterus 22 / 7739
8
(HPO:0000037) Male pseudohermaphroditism Occasional [Orphanet] 25 / 7739
9
(HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
10
(HPO:0000048) Bifid scrotum Occasional [Orphanet] 36 / 7739
11
(HPO:0009792) Teratoma Very frequent [Orphanet] 7 / 7739
12
(HPO:0000143) Rectovaginal fistula 18 / 7739
13
(HPO:0000011) Neurogenic bladder 11 / 7739
14
(HPO:0000085) Horseshoe kidney 39 / 7739
15
(HPO:0000010) Recurrent urinary tract infections 56 / 7739
16
(HPO:0001263) Global developmental delay 853 / 7739
17
(HPO:0009791) Bifid sacrum 22% [HPO:probinson] 1 / 7739
18
(HPO:0009790) Hemisacrum 75% [HPO:probinson] 4 / 7739
19
(HPO:0010305) Absence of the sacrum Very frequent [Orphanet] 17 / 7739
20
(HPO:0100559) Lower limb asymmetry Occasional [Orphanet] 30 / 7739
21
(HPO:0007293) Anterior sacral meningocele 4 / 7739
22
(HPO:0003270) Abdominal distention 46 / 7739
23
(HPO:0010447) Anal fistula 1 / 7739
24
(HPO:0002023) Anal atresia 135 / 7739
25
(HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
26
(HPO:0009789) Perianal abscess 4 / 7739
27
(HPO:0012450) Chronic constipation 10 / 7739
28
(HPO:0004796) Gastrointestinal obstruction 1 / 7739
29
(HPO:0002025) Anal stenosis 23 / 7739
30
(HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
31
(OMIM) Rectal dilatation 1 / 7739
32
(MedDRA:10002581) Anorectal stenosis 2 / 7739
33
(OMIM) Anorectal sinus 1 / 7739
34
(OMIM) Perianal sepsis/abscess 1 / 7739
35
(HPO:0011420) Death Occasional [Orphanet] 184 / 7739
36
(HPO:0003829) Incomplete penetrance 85 / 7739
37
(HPO:0002144) Tethered cord 8 / 7739
38
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
(OMIM) Preserved S1 vertebrae 1 / 7739
40
(OMIM) Enteric cyst 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM - Prenatal Diagnosis

Cretolle et al. (2007) reported prenatal diagnosis of Currarino syndrome by ultrasound in a second pregnancy at 22 weeks' gestation. The mother had a previous pregnancy in which the newborn had complex malformations ...

Clinical Description OMIM The Currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation (Currarino et al., 1981). The specific sacral anomaly is distinct to this syndrome. Of 10 ...
Genotype-Phenotype Correlations OMIM Kochling et al. (2001) analyzed the genotype-phenotype correlation in 23 patients from 9 families with mutations in the homeobox gene HLXB9. Although 10 of the patients were asymptomatic, radiologic investigation revealed characteristic phenotypic features in all patients. The ...
Molecular genetics OMIM Ross et al. (1998) demonstrated mutations in the homeobox gene HLXB9 (142994) as the cause of the Currarino syndrome. In the families they studied, some individuals had the typical scimitar, or sickle-shaped, hemisacrum but were asymptomatic, whereas others ...