Living with Currarino triad
An inherited condition with differences of the lower spine, the rectum and anus, and a mass in front of the tailbone.
Understanding Currarino triad
The anorectal difference is most often a narrowing of the anus or rectum. The mass can be a teratoma, an anterior sacral meningocele, or both. Only about 1 in 5 people has all three. It is a spectrum with wide variation, and up to one-third have no symptoms and are only diagnosed in adulthood when X-rays or ultrasounds are done for other reasons.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic constipation
- Narrowed or absent anal opening
- Underdeveloped sacrum (lower spine)
- Mass in front of the sacrum
- Low back pain
- Abdominal bloating and cramps
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, digestive system specialists, genetic specialists and maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in MNX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pull-thru Network
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is most often caused by changes in the MNX1 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: currarino syndrome
Patient organizations
- Pull-thru NetworkCurrarino triad · United States
You are more than your diagnosis
Perspectives from people navigating life with Currarino triad.
Explore research for Currarino triad
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- Eligibility is confirmed by the study team
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