U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

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

Synonyms
Sacral agenesis with vertebral anomalies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sacral agenesis with vertebral anomalies (SAVA) is an autosomal recessive syndrome comprising sacral agenesis, abnormal ossification of the vertebral bodies, and a persistent notochordal canal spanning the complete vertebral column (Postma et al., 2014). [from OMIM]

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SAVA, T, TFT, TBXT
    Summary: T-box transcription factor T

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.