Currarino triad

Title

Other Names:

Currarino syndrome; Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases; Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases; Musculoskeletal Diseases See More

Summary Summary

Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present.^[1]^[2]

Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons.^[1]^[2] Currarino triad is most often caused by mutations in the MNX1 gene.^[3] Treatment depends on the type and severity of abnormalities present, but may involve surgery.^[1]^[2]^[3]

Last updated: 3/30/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Aplasia/Hypoplasia of the sacrum	90%
Presacral teratoma	90%
Hemisacrum	75%
Bifid sacrum	22%
Arteriovenous malformation	7.5%
Bifid scrotum	7.5%
Displacement of the external urethral meatus	7.5%
Hypoplasia of penis	7.5%
Lower limb asymmetry	7.5%
Male pseudohermaphroditism	7.5%
Abdominal distention	-
Anal atresia	-
Anal fistula	-
Anal stenosis	-
Anterior sacral meningocele	-
Autosomal dominant inheritance	-
Bicornuate uterus	-
Chronic constipation	-
Gastrointestinal obstruction	-
Horseshoe kidney	-
Incomplete penetrance	-
Neurogenic bladder	-
Perianal abscess	-
Rectovaginal fistula	-
Recurrent urinary tract infections	-
Septate vagina	-
Tethered cord	-
Urinary incontinence	-
Vesicoureteral reflux	-

Last updated: 9/1/2016

Cause Cause

Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein.^[3]

Less frequently, a complex phenotype of Currarino triad can be caused by microdeletions of 7q containing MNX1 (the long arm of chromosome 7 is missing a small piece of DNA which includes MNX1 and other genes).^[3]

Last updated: 3/30/2016

Inheritance Inheritance

Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition.^[3]

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.^[3]^[1]^[2]

Last updated: 3/30/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Currarino triad. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Currarino triad. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Can there be a presacral mass with no anal malformation in Currarino triad? See answer

References References

Patel RV, De Coppi P, Kiely E, and Pierro A. Currarino's syndrome in twins presenting as neonatal intestinal obstruction--identical presentation in non-identical twins. BMJ Case Rep. September 8 2014; http://www.ncbi.nlm.nih.gov/pubmed/25199187.
Akay S, Battal B, Karaman B, and Bozkurt Y. Complete Currarino Syndrome Recognized in Adulthood. Journal of Clinical Imaging Science. 2015; 5:10. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374199/.
Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, and Babovic-Vuksanovic D. Phenotype analysis impacts testing strategy in patients with Currarino syndrome. Clin Genet. January 2016; 89(1):109-114. http://www.ncbi.nlm.nih.gov/25691298.