spondylocostal dysostosis 5
Findings
No curated finding names spondylocostal dysostosis 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.
Definition from the Mondo Disease Ontology (MONDO:0007389), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Disproportionate short-trunk short statureHPOHP:0003521
- 3 of 3 reported patients
- HemivertebraeHPOHP:0002937
- 26 of 26 reported patients
- ScoliosisHPOHP:0002650
- 3 of 3 reported patients
- 23 of 23 reported patients · Congenital onset
- Vertebral fusionHPOHP:0002948
- 3 of 3 reported patients
- Missing ribsHPOHP:0000921
- 15 of 23 reported patients
- Butterfly vertebraeHPOHP:0003316
- 5 of 23 reported patients
- Syringomyelia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBX6HGNC:11605
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Semidominant · 2017
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
7 names
Resolves to: spondylocostal dysostosis 5
- Also called
- costovertebral segmentation anomaliesSCDO5scoliosis, congenital, with or without rib anomaliesspondylocostal dysostosis caused by mutation in TBX6spondylocostal dysostosis type 5spondylothoracic dysostosisTBX6 spondylocostal dysostosis