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Living with Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

A rare genetic condition found around birth with a missing tailbone area of the spine, other spine bone differences, and clubfoot.

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Understanding Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare genetic neural tube defect syndrome.

It involves a missing sacrum (the bone at the base of the spine) and unusual hardening of the spine bones. A canal remains open in the spine, which shows on ultrasound. Other findings include clubfoot on both sides, low amniotic fluid, a single umbilical artery, and sometimes a thicker neck fold on ultrasound. It is noticed during pregnancy or in newborns.

Signs & symptoms

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

  • Missing sacrum (sacral agenesis)
  • Spine bone differences
  • Gaps in spine bones (vertebral clefting)
  • Absent anal opening (anal atresia)
  • Missing kidney on one side
  • Shared exit for the bowel and urinary tract (cloaca)

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 brain and nervous system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in TBXT 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
Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
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 rare disease patient organizations for support
  • 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
Should we have genetic testing for the TBXT gene?
Which specialists should care for the spine, kidneys, and bowel?
What is the chance of this happening in another pregnancy?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Recessive
GenesTBXT

It is caused by changes in the TBXT gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.

GeneticNeurological

Also known as: sacral agenesis with vertebral anomalies

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromeGARD ID 17642 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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