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Living with Caudal regression sequence

A condition that affects how the lower spine forms and can affect the lower body, kidneys, and bowel.

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Understanding Caudal regression sequence

Caudal regression sequence is a disorder that affects development of the lower part of the spine.

It can affect the lower back and limbs, the urinary and genital organs, and the digestive tract. The lower spine bones may be misshapen or missing, and the end of the spinal cord may be malformed, missing, or tethered to nearby tissue. It begins during pregnancy or at birth.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Misshapen, fused, or missing lower spine bones
  • Differences in the pelvis bones
  • Missing kidney or kidney in an unusual place
  • Differences in the ureter (tube from the kidney)
  • Absent anal opening (anal atresia)
  • Heart differences

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in FUZ are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    International Sacral Agenesis/Caudal Regression Association and Spina Bifida Association may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
Expert care
Expert lists: International Sacral Agenesis/Caudal Regression Association, Spina Bifida Association
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 International Sacral Agenesis/Caudal Regression Association and other patient organizations
  • 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
Bring these questions to your next doctor visit
Which tests will show how the spine and spinal cord are affected?
How should bladder, bowel, and kidney health be monitored?
Which specialists should be on my child's care team?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
GenesFUZ

Changes in the FUZ gene are listed for this condition. GARD doesn't describe how it is inherited.

GeneticNeurologicalKidneyGastrointestinalUrinary and Reproductive

Also known as: caudal dysgenesis syndrome; caudal dysplasia; caudal dysplasia sequence; caudal regression syndrome; sacral agenesis syndrome; sacral regression syndrome

Patient organizations

Source: NIH GARD · Caudal regression sequenceGARD ID 6007 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

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Explore research for Caudal regression sequence

Explore actively recruiting Caudal regression sequence studies with HealthSpark.

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Find actively recruiting studies for Caudal regression sequence with HealthSpark. Share your city to explore research near you.

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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