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