Mondo Description Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.

Uniprot Description A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive.