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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the sacrum	Absent/small sacrum Absent/underdeveloped sacrum [ more ]	0008517
Sacrococcygeal teratoma		0030736
5%-29% of people have these symptoms
Abnormal intestine morphology	Abnormality of the intestine	0002242
Arteriovenous malformation		0100026
Bifid scrotum	Cleft of scrotum	0000048
Hypoplasia of penis	Underdeveloped penis	0008736
Hypospadias		0000047
Lower limb asymmetry		0100559
Male pseudohermaphroditism		0000037
Vesicoureteral reflux		0000076
1%-4% of people have these symptoms
Bifid sacrum		0009791
Hemisacrum		0009790
Percent of people who have these symptoms is not available through HPO
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Anal atresia	Absent anus	0002023
Anal fistula		0010447
Anal stenosis	Narrowing of anal opening	0002025
Anterior sacral meningocele		0007293
Autosomal dominant inheritance		0000006
Bicornuate uterus	Heart shaped uterus Heart-shaped uterus [ more ]	0000813
Chronic constipation	Infrequent bowel movements	0012450
Dilatation	Wider than typical opening or gap	0002617
Gastrointestinal obstruction	Obstruction in digestive tract	0004796
Global developmental delay		0001263
Horseshoe kidney	Horseshoe kidneys	0000085
Incomplete penetrance		0003829
Neurogenic bladder		0000011
Perianal abscess		0009789
Presacral teratoma		0009793
Rectovaginal fistula		0000143
Recurrent urinary tract infections	Frequent urinary tract infections Urinary infection Urinary tract infection Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Sepsis		0100806
Septate vagina	Double vagina	0001153
Tethered cord		0002144
Urinary incontinence	Loss of bladder control	0000020

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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 related to Currarino triad. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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

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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.

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