spondylocostal dysostosis
MONDO:0000359Mondo
Findings
No curated finding names spondylocostal dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).
Definition from the Mondo Disease Ontology (MONDO:0000359), read 2026-09-29. CC BY 4.0.
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.
- DMRT2HGNC:2935
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: spondylocostal dysostosis
- Also called
- costovertebral dysplasiaspondylocostal dysplasia