Currarino Syndrome

Description

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).

Clinical Features

Phenotypes and symptoms related to Currarino Syndrome

  • Hypospadias
  • Vesicoureteral reflux
  • Hypoplasia of penis
  • Abnormal intestine morphology
  • Bifid scrotum
  • Male pseudohermaphroditism
  • Arteriovenous malformation
  • Lower limb asymmetry
  • Sacrococcygeal teratoma
  • Aplasia/Hypoplasia of the sacrum

Incidence and onset information

— Based on the latest data available CURRARINO SYNDROME have a estimated prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Currarino Syndrome Is also known as currarino triad.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Currarino Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1
Specificity
8 %
Genes
100 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2
Specificity
9 %
Genes
100 %
MNX1 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

MNX1
Specificity
100 %
Genes
100 %
MNX1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

MNX1
Specificity
100 %
Genes
100 %
HLXB9. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MNX1
Specificity
100 %
Genes
100 %
Currarino syndrome (sequence analysis of MNX1 gene).

By CGC Genetics (Portugal).

MNX1
Specificity
100 %
Genes
100 %

We have 16 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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