Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome (SAVA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0014314

Also known as:SAVAsacral agenesis with vertebral anomalies

Overview

GeneticsAutosomal recessive · TBXT (chr 6)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Absence of the sacrum and Abnormal vertebral morphology; and common findings: Anal atresia, Unilateral renal agenesis, Persistent cloaca, and Vertebral clefting.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Abnormal vertebral morphology, Vertebral clefting

Genetic Landscape

TBXT function has not been fully characterized.

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is associated with mutations in the TBXT gene on chromosome 6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TBXT is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.

1 publication has been identified in PubMed for sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Szoszkiewicz A (2026). [PMID: 41751889](https://pubmed.ncbi.nlm.nih.gov/41751889/). *Int J Mol Sci*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615709

Orphanet

European rare disease database

Orphanet:397927

GARD

Genetic and Rare Diseases Info Center

GARD:17642

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

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

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features